(Q24301463)

English

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

scientific article

In more languages

Statements

scholarly article

0 references

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

0 references

0 references

1 reference

based on heuristic

inferred from title

Empty spiracles homeobox 1

1 reference

GOA release 2020-03-11

WD repeat domain 11

1 reference

GOA release 2020-03-11

Empty spiracles homeobox 1

1 reference

GOA release 2020-03-11

WD repeat domain 11

1 reference

GOA release 2020-03-11

Kallmann syndrome

1 reference

based on heuristic

inferred from title

Hans-Hilger Ropers

20

0 references

Vera M. Kalscheuer

22

0 references

Reinhard Ullmann

4

0 references

object named as

Ingo Kurth

3

0 references

Wolfgang Wenzel

object named as

Wolfgang Wenzel

10

0 references

object named as

Cheol-Hee Kim

19

0 references

object named as

Mustafa Tekin

17

0 references

object named as

Soo-Hyun Kim

18

0 references

James F. Gusella

21

object named as

James F Gusella

0 references

Irene Meliciani

9

object named as

Irene Meliciani

0 references

Richard J Sherins

15

object named as

Richard J Sherins

0 references

author name string

Hyung-Goo Kim

1

0 references

Jang-Won Ahn

2

0 references

Hyun-Taek Kim

5

0 references

Anita Kulharya

6

0 references

Kyung-Soo Ha

7

0 references

Yasuhide Itokawa

8

0 references

Deresa Lee

11

0 references

Georg Rosenberger

12

0 references

Metin Ozata

13

0 references

David P Bick

14

0 references

Takahiro Nagase

16

0 references

Cheol Yong Choi

23

0 references

Lawrence C Layman

24

0 references

language of work or name

0 references

publication date

8 October 2010

0 references

American Journal of Human Genetics

0 references

87

0 references

4

0 references

465-79

0 references

on focus list of Wikimedia project

0 references

Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

The sonic hedgehog-patched-gli pathway in human development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Suppression of metastasis in human breast carcinoma MDA-MB-435 cells after transfection with the metastasis suppressor gene, KiSS-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

The structure of Aip1p, a WD repeat protein that regulates Cofilin-mediated actin depolymerization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

The GPR54 gene as a regulator of puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Emx1 and Emx2 cooperate to regulate cortical size, lamination, neuronal differentiation, development of cortical efferents, and thalamocortical pathfinding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Dorsoventral patterning of the telencephalon is disrupted in the mouse mutant extra-toes(J)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Gli3 is required for Emx gene expression during dorsal telencephalon development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

KiSS-1, a novel human malignant melanoma metastasis-suppressor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

19 March 2017

Gene networks and the neuroendocrine regulation of puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Clinical manifestations of impaired GnRH neuron development and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Gene expression profiling of hypothalamic hamartomas: a search for genes associated with central precocious puberty

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Gonadotropin-releasing hormone neuronal migration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Stealing the spotlight: CUL4-DDB1 ubiquitin ligase docks WD40-repeat proteins to destroy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

The crystal structure of a cross-linked actin dimer suggests a detailed molecular interface in F-actin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Identification of functional residues on Caenorhabditis elegans actin-interacting protein 1 (UNC-78) for disassembly of actin depolymerizing factor/cofilin-bound actin filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Terminal deletion of chromosome 10q at band 26.1: follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Long arm deletion of chromosome 10 in a boy with monorchidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Identification of highly expressed genes in metastasis-suppressed chromosome 6/human malignant melanoma hybrid cells using subtractive hybridization and differential display

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

27 September 2017

Unique expression pattern of a novel mosaic receptor in the developing cerebral cortex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

30 May 2018

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

Isolation and expression analysis of Alzheimer's disease-related gene xb51 in zebrafish.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

Empty spiracles is required for the development of olfactory projection neuron circuitry in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

Actin's many actions start at the genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

Bilateral cryptorchidism associated with terminal deletion of 10q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

Differential expression of two zebrafish emx homeoprotein mRNAs in the developing brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948809

29 November 2018

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20887964

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ClustalW-MPI: ClustalW analysis using distributed and parallel computing

1 reference

https://pubmed.ncbi.nlm.nih.gov/20887964

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.08.018

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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=Q24301463&oldid=2118510946"