Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies (Q36061595)

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Language	Label	Description	Also known as
English	Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies	scientific article

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scholarly article

1 reference

Europe PubMed Central

11 August 2017

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies (English)

1 reference

Europe PubMed Central

11 August 2017

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phosphorylation

1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Nicholas Katsanis

29

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Europe PubMed Central

11 August 2017

Marco Tartaglia

31

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Europe PubMed Central

11 August 2017

Gabriele Gillessen-Kaesbach

22

object named as

Gabriele Gillessen-Kaesbach

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object named as

Andrea Ciolfi

8

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Massimiliano Anselmi

object named as

Massimiliano Anselmi

6

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Maria T. Fiorenza

object named as

Maria T Fiorenza

14

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Gianfranco Bocchinfuso

object named as

Gianfranco Bocchinfuso

28

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Sabrina Prudente

object named as

Sabrina Prudente

13

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Alessandro Bruselles

object named as

Alessandro Bruselles

10

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Philippe M. Campeau

object named as

Philippe M Campeau

24

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Emilia Stellacci

object named as

Emilia Stellacci

2

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Kim M Keppler-Noreuil

20

object named as

Kim Keppler-Noreuil

1 reference

Europe PubMed Central

11 August 2017

Marcello Niceta

1

object named as

Marcello Niceta

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Europe PubMed Central

11 August 2017

7

object named as

Alice Traversa

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Europe PubMed Central

11 August 2017

11

object named as

Viviana Caputo

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Europe PubMed Central

11 August 2017

16

object named as

Nicole Philip

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Europe PubMed Central

11 August 2017

3

object named as

Karen W Gripp

1 reference

Europe PubMed Central

11 August 2017

Serena Cecchetti

12

object named as

Serena Cecchetti

1 reference

Europe PubMed Central

11 August 2017

author name string

Giuseppe Zampino

4

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Europe PubMed Central

11 August 2017

Maria Kousi

5

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Europe PubMed Central

11 August 2017

Deborah Stabley

9

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Europe PubMed Central

11 August 2017

Carla Boitani

15

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Europe PubMed Central

11 August 2017

Dmitriy Niyazov

17

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Europe PubMed Central

11 August 2017

Chiara Leoni

18

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Europe PubMed Central

11 August 2017

Takaya Nakane

19

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Europe PubMed Central

11 August 2017

Stephen R Braddock

21

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Europe PubMed Central

11 August 2017

Antonio Palleschi

23

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Europe PubMed Central

11 August 2017

Brendan H L Lee

25

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Europe PubMed Central

11 August 2017

Celio Pouponnot

26

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Europe PubMed Central

11 August 2017

Lorenzo Stella

27

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Europe PubMed Central

11 August 2017

Katia Sol-Church

30

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Europe PubMed Central

11 August 2017

language of work or name

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publication date

9 April 2015

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Europe PubMed Central

11 August 2017

American Journal of Human Genetics

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Europe PubMed Central

11 August 2017

96

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Europe PubMed Central

11 August 2017

816-825

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Europe PubMed Central

11 August 2017

5

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Europe PubMed Central

11 August 2017

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Mutations in ZBTB20 cause Primrose syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A new MAFia in cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Large Maf Transcription Factors: Cousins of AP-1 Proteins and Important Regulators of Cellular Differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

GSK-3-mediated phosphorylation enhances Maf-transforming activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

MafA stability in pancreatic beta cells is regulated by glucose and is dependent on its constitutive phosphorylation at multiple sites by glycogen synthase kinase 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Multiple mechanisms and functions of maf transcription factors in the regulation of tissue-specific genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A biomolecular force field based on the free enthalpy of hydration and solvation: the GROMOS force-field parameter sets 53A5 and 53A6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Expression of c-maf and mafB genes in the skin during rat embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Structural characterization of the GSK-3beta active site using selective and non-selective ATP-mimetic inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Absence of transcription factor c-maf causes abnormal terminal differentiation of hypertrophic chondrocytes during endochondral bone development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Regulation of mouse lens fiber cell development and differentiation by the Maf gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

c-maf promotes T helper cell type 2 (Th2) and attenuates Th1 differentiation by both interleukin 4-dependent and -independent mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

The Maf transcription factors: regulators of differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

Rat maf related genes: specific expression in chondrocytes, lens and spinal cord

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

2 October 2017

GSK3-mediated MAF phosphorylation in multiple myeloma as a potential therapeutic target

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

11 July 2018

Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

11 July 2018

Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

11 July 2018

c-Maf is required for the development of dorsal horn laminae III/IV neurons and mechanoreceptive DRG axon projections.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

The transcription factor c-Maf controls touch receptor development and function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Further clinical delineation of Fine-Lubinsky syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570552

23 September 2018

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/25865493

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Energetics of nucleophile activation in a protein tyrosine phosphatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/25865493

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2015.03.001

1 reference

Europe PubMed Central

11 August 2017

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Europe PubMed Central

11 August 2017

1 reference

Europe PubMed Central

11 August 2017

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