Kallmann syndrome: fibroblast growth factor signaling insufficiency? (Q35886618)

10 August 2017

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title

Kallmann syndrome: fibroblast growth factor signaling insufficiency? (English)

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10 August 2017

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2

Jean-Pierre Hardelin

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10 August 2017

Catherine Dodé

1

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10 August 2017

8 September 2004

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Journal of Molecular Medicine

10 August 2017

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10 August 2017

82

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10 August 2017

725-734

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10 August 2017

11

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https://scigraph.springernature.com/pub.10.1007/s00109-004-0571-y

10 August 2017

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cites work

Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-004-0571-Y

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

21 January 2018

1 reference

12 December 2020

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

1 reference

12 December 2020

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

1 reference

12 December 2020

Cell signaling by receptor tyrosine kinases

1 reference

12 December 2020

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

1 reference

12 December 2020

Basic fibroblast growth factor isoforms promote axonal elongation and branching of adult sensory neurons in vitro.

1 reference

12 December 2020

Neuroglian and FasciclinII can promote neurite outgrowth via the FGF receptor Heartless

1 reference

12 December 2020

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

1 reference

12 December 2020

Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1.

1 reference

12 December 2020

Xp22.3 deletions in isolated familial Kallmann's syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

1 reference

12 December 2020

Developmental regulation of gonadotropin-releasing hormone neurons by fibroblast growth factor signaling.

1 reference

12 December 2020

Unilateral renal aplasia in X-linked Kallmann's syndrome

1 reference

12 December 2020

Identical twins discordant for Kallmann's syndrome

1 reference

12 December 2020

Structure and function of fibronectin modules

1 reference

12 December 2020

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

1 reference

12 December 2020

Cleft palate: players, pathways, and pursuits

1 reference

12 December 2020

Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome

1 reference

12 December 2020

Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras

1 reference

12 December 2020

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus

1 reference

12 December 2020

Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene.

1 reference

12 December 2020

Kinetic model for FGF, FGFR, and proteoglycan signal transduction complex assembly

1 reference

12 December 2020

Abnormal cortex-muscle interactions in subjects with X-linked Kallmann's syndrome and mirror movements

1 reference

12 December 2020

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.

1 reference

12 December 2020

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

1 reference

12 December 2020

Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity

1 reference

12 December 2020

Fibroblast growth factor receptor 1 is required for the proliferation of hippocampal progenitor cells and for hippocampal growth in mouse.

1 reference

12 December 2020

Differential sulfations and epimerization define heparan sulfate specificity in nervous system development.

1 reference

12 December 2020

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

1 reference

12 December 2020

Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.

1 reference

12 December 2020

A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome

1 reference

12 December 2020

Kallmann syndrome: towards molecular pathogenesis

1 reference

12 December 2020

Evidence that pioneer olfactory axons regulate telencephalon cell cycle kinetics to induce the formation of the olfactory bulb

1 reference

12 December 2020

Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.

1 reference

12 December 2020

Building proteins with fibronectin type III modules

1 reference

12 December 2020

A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+)

1 reference

12 December 2020

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

12 December 2020

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1 reference

12 December 2020

Effect of Purified Luteinizing Hormone Releasing Factor on Normal and Hypogonadotrophic Anosmic Men

1 reference

12 December 2020

Axonal glycoproteins with immunoglobulin- and fibronectin type III-related domains in vertebrates: structural features, binding activities, and signal transduction

1 reference

12 December 2020

Complex chromosomal translocation in a patient with Kallmann syndrome

1 reference

12 December 2020

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.

1 reference

12 December 2020

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

1 reference

12 December 2020

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural basis for a direct interaction between FGFR1 and NCAM and evidence for a regulatory role of ATP

1 reference

12 December 2020

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

1 reference

12 December 2020

Elafin: an elastase-specific inhibitor of human skin. Purification, characterization, and complete amino acid sequence

1 reference

12 December 2020

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

1 reference

12 December 2020

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

1 reference

12 December 2020

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

1 reference

12 December 2020

Kallmann syndrome associated with complex chromosome rearrangement

1 reference

12 December 2020

The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching

1 reference

12 December 2020

Studies in cranio-encephalic dysraphia. I. Agenesia of the olfactory lobe (lateral telencephaloschisis) and of the callous and anterior commissures (median telencephaloschisis); olfacto-genital dysplasia

1 reference

12 December 2020

Isolation and sequence of a human gene encoding a potent inhibitor of leukocyte proteases

1 reference

12 December 2020

Loss of glutamatergic pyramidal neurons in frontal and temporal cortex resulting from attenuation of FGFR1 signaling is associated with spontaneous hyperactivity in mice

1 reference

12 December 2020

Differential functions of the C. elegans FGF receptor in axon outgrowth and maintenance of axon position.

1 reference

12 December 2020

Signal transduction. Autoinhibition control

1 reference

12 December 2020

A stain upon the silence: genes escaping X inactivation

1 reference

12 December 2020

Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity

1 reference

12 December 2020

Heterogeneity of Kallmann's syndrome

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12 December 2020

The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review

1 reference

12 December 2020

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

1 reference

12 December 2020

Origin of luteinizing hormone-releasing hormone neurons

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12 December 2020

Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study

1 reference

12 December 2020

FGF signaling through FGFR1 is required for olfactory bulb morphogenesis.

1 reference

12 December 2020

Structural basis for FGF receptor dimerization and activation

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12 December 2020

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

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12 December 2020

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

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12 December 2020

Chromosome abnormality in Kallmann syndrome

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12 December 2020

A first-generation X-inactivation profile of the human X chromosome

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12 December 2020

Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization

1 reference

12 December 2020

Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance.

1 reference

12 December 2020

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting

1 reference

12 December 2020

Basic fibroblast growth factor (Fgf2) is necessary for cell proliferation and neurogenesis in the developing cerebral cortex.

1 reference

12 December 2020

Fgfr1 regulates patterning of the pharyngeal region

1 reference

12 December 2020

Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate

1 reference

12 December 2020

Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin

1 reference

12 December 2020

The EGF and FGF receptors mediate neuroglian function to control growth cone decisions during sensory axon guidance in Drosophila.

1 reference

12 December 2020

Heparan sulfate fine structure and specificity of proteoglycan functions

1 reference

12 December 2020

The acid-stable proteinase inhibitor of human mucous secretions (HUSI-I, antileukoprotease). Complete amino acid sequence as revealed by protein and cDNA sequencing and structural homology to whey proteins and Red Sea turtle proteinase inhibitor

1 reference

12 December 2020

Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains

1 reference

12 December 2020

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency

1 reference

12 December 2020

10.1007/S00109-004-0571-Y

Identifiers

DOI

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10 August 2017

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PubMed ID

15365636