Transcription factor FIGLA is mutated in patients with premature ovarian failure (Q21710713)

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7 January 2020

case report

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title

Transcription factor FIGLA is mutated in patients with premature ovarian failure (English)

1 reference

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premature ovarian failure

7 January 2020

main subject

patient

0 references

1 reference

2

Zi-Jiang Chen

Zi-Jiang

Chen

1 reference

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7 January 2020

6

Youngsok Choi

Youngsok

Choi

1 reference

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7 January 2020

3

Yingying

Qin

Yingying Qin

1 reference

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7 January 2020

Han Zhao

1

Han

Zhao

1 reference

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7 January 2020

Yuhua Shi

4

Yuhua

Shi

1 reference

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7 January 2020

Shan Wang

5

Shan

Wang

1 reference

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7 January 2020

Joe Leigh Simpson

7

Joe Leigh

Simpson

1 reference

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7 January 2020

Aleksandar Rajkovic

8

Aleksandar

Rajkovic

1 reference

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7 January 2020

language of work or name

English

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publication date

22 May 2008

1 reference

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American Journal of Human Genetics

7 January 2020

published in

1 reference

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7 January 2020

volume

82

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7 January 2020

page(s)

1342-1348

1 reference

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7 January 2020

issue

6

1 reference

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NOBOX homeobox mutation causes premature ovarian failure

7 January 2020

cites work

1 reference

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Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure

19 March 2017

1 reference

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Premature ovarian failure

19 March 2017

1 reference

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An overview of the basic helix-loop-helix proteins

19 March 2017

1 reference

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Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

19 March 2017

1 reference

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The fragile-X premutation: a maturing perspective

19 March 2017

1 reference

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Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary

19 March 2017

1 reference

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DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation

19 March 2017

1 reference

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Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

19 March 2017

1 reference

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Growth differentiating factor-9 mutations may be associated with premature ovarian failure

19 March 2017

1 reference

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Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance

19 March 2017

1 reference

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Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance

19 March 2017

1 reference

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Transcription factors 2: helix-loop-helix

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

FIGalpha, a germ cell specific transcription factor involved in the coordinate expression of the zona pellucida genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

X chromosome and ovarian failure.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Candidate genes for premature ovarian failure.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

The FMR1 premutation and reproduction

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

The genetic basis of premature ovarian failure.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Genetic dissection of mammalian fertility pathways

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Transcription factor haploinsufficiency: when half a loaf is not enough

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

FIGalpha, a germ cell-specific transcription factor required for ovarian follicle formation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Ovarian differentiation and gonadal failure

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Specificity in cholesterol regulation of gene expression by coevolution of sterol regulatory DNA element and its binding protein

12 September 2017

1 reference

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Molecular dissection of the events leading to inactivation of the FMR1 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Family history as a predictor of early menopause.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Association of FMR1 repeat size with ovarian dysfunction.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Incidence of premature ovarian failure.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Premature ovarian failure

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427265

Measurement of dimeric inhibin B throughout the human menstrual cycle

29 November 2018

1 reference

12 December 2020

Inhibin: a candidate gene for premature ovarian failure

1 reference

12 December 2020

Detection of dimeric inhibin throughout the human menstrual cycle by two-site enzyme immunoassay

1 reference

12 December 2020

Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure

1 reference

12 December 2020

The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry

1 reference

12 December 2020

1 reference

12 December 2020

Characterization of idiopathic premature ovarian failure

1 reference

12 December 2020

10.1016/J.AJHG.2008.04.018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18499083%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18499083%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference