Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure (Q24799860)

4 July 2017

Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure (English)

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obstetrics and gynaecology

4 July 2017

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premature ovarian failure

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Kyoko Shibanuma

1

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4 July 2017

Zhi-Bin Tong

2

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4 July 2017

Vien H Vanderhoof

3

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4 July 2017

Konstantina Vanevski

4

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4 July 2017

Lawrence M Nelson

5

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4 July 2017

language of work or name

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1 August 2002

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4 July 2017

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4 July 2017

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4 July 2017

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4 July 2017

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Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Commuting the death sentence: how oocytes strive to survive

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

A novel KIT mutation results in piebaldism with progressive depigmentation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Familial premature ovarian failure.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

The primordial germ cells of mammals: some current perspectives

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in culture

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Requirement for mast cell growth factor for primordial germ cell survival in culture

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

The genetic origins of ovarian failure.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

Biological bases of premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

Piebaldism with deafness: molecular evidence for an expanded syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

The kit-ligand (steel factor) and its receptor c-kit/W: pleiotropic roles in gametogenesis and melanogenesis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122069

Effects of the steel gene product on mouse primordial germ cells in culture

28 November 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

Premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

Evidence for a genetic factor in the etiology of premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

Inhibin: a candidate gene for premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6874-2-8

21 January 2018

Identifiers

DOI

10.1186/1472-6874-2-8

1 reference

Dimensions Publication ID

4 July 2017

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1 reference

4 July 2017

1 reference