Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era (Q87993928)

From Wikidata

Jump to navigation Jump to search

scientific article published on 01 February 2016

Language	Label	Description	Also known as
English	Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era	scientific article published on 01 February 2016

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

Europe PubMed Central

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

William F. Crowley

3

object named as

William F Crowley

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

M I Stamou

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

K H Cox

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

1 February 2016

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Endocrine Reviews

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

2016

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

4-22

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Distribution and medical impact of loss-of-function variants in the Finnish founder population

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genome-wide association study of early menopause and the combined impact of identified variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A promoter-level mammalian expression atlas

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GPR54 gene as a regulator of puberty

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteomics. Tissue-based map of the human proteome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex steroids and the control of the Kiss1 system: developmental roles and major regulatory actions

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease gene discovery through integrative genomics

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anosmin-1a is required for fasciculation and terminal targeting of olfactory sensory neuron axons in the zebrafish olfactory system.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shared genetic factors for age at natural menopause in Iranian and European women

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ancient founder mutation in PROKR2 impairs human reproduction

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kisspeptins and the neuroendocrine control of reproduction

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A framework for the interpretation of de novo mutation in human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the phenotype and genotype of female GnRH deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of gonadotropin-releasing hormone secretion by kisspeptin/dynorphin/neurokinin B neurons in the arcuate nucleus of the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that Neurokinin B Controls Basal Gonadotropin-Releasing Hormone Secretion but Is Not Critical for Estrogen-Positive Feedback in Sheep

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-range restriction map of the terminal part of the short arm of the human X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypophysial Responses to Continuous and Intermittent Delivery of Hypothalamic Gonadotropin-Releasing Hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Making senses development of vertebrate cranial placodes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neural crest and ectodermal cells intermix in the nasal placode to give rise to GnRH-1 neurons, sensory neurons, and olfactory ensheathing cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of GnRH cells: Setting the stage for puberty

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential regulation of KiSS-1 mRNA expression by sex steroids in the brain of the male mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroanatomy of the kisspeptin signaling system in mammals: comparative and developmental aspects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex and smell – an enigma resolved

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of recombinant leptin therapy in a child with congenital leptin deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA-RNA interactions in gene regulation: the coding and noncoding players

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of heparan sulfate in fibroblast growth factor signalling: a structural view

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic dissection of puberty in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TiGER: a database for tissue-specific gene expression and regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immortalization of hypothalamic GnRH neurons by genetically targeted tumorigenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Commentary: the year in endocrine genetics for basic scientists

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurokinin B and dynorphin A in kisspeptin neurons of the arcuate nucleus participate in generation of periodic oscillation of neural activity driving pulsatile gonadotropin-releasing hormone secretion in the goat.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurokinin B and the hypothalamic regulation of reproduction

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A leptin missense mutation associated with hypogonadism and morbid obesity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Migratory arrest of gonadotropin-releasing hormone neurons in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of neurokinin B signalling in reproductive neuroendocrinology

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gonadal development and gametogenesis in the hypogonadal mouse are restored by gene transfer

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic basis for functional hypothalamic amenorrhea

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic regulation of female puberty.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FGFR1 and anosmin-1 underlying genetically distinct forms of Kallmann syndrome are co-expressed and interact in olfactory bulbs.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset idiopathic hypogonadotropic hypogonadism--a treatable form of male infertility

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and cellular properties of GnRH neurons revealed through transgenics in the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Axl and Tyro3 modulate female reproduction by influencing gonadotropin-releasing hormone neuron survival and migration

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New understandings of the genetic basis of isolated idiopathic central hypogonadism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meta-analysis of loci associated with age at natural menopause in African-American women

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identified GnRH neuron electrophysiology: a decade of study

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in FEZF1 cause Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic control of female puberty

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for investigating causality of sequence variants in human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA-mediated epigenetic regulation of gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical diagnosis by whole-genome sequencing of a prenatal sample

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Forebrain projections of arcuate neurokinin B neurons demonstrated by anterograde tract-tracing and monosodium glutamate lesions in the rat.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LHRH Cells Migrate on Peripherin Fibers in Embryonic Olfactory Explant Cultures: An in Vitro Model for Neurophilic Neuronal Migration

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The developmental biology of the GnRH neurons.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of luteinizing hormone-releasing hormone neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kisspeptin neurons in the arcuate nucleus of the ewe express both dynorphin A and neurokinin B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypogonadotropic disorders in men and women: diagnosis and therapy with pulsatile gonadotropin-releasing hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated GnRH deficiency: a disease model serving as a unique prism into the systems biology of the GnRH neuronal network

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene expression atlas at the European bioinformatics institute

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/27454361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/ER.2015-1045.2016.1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27454361%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q87993928&oldid=1758089799"