160 related articles for article (PubMed ID: 35801529)
1. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ; Gutfreund N; Belaud-Rotureau MA; Gilot D; Brun T; Kline BL; Bell KM; Domin-Bernhard M; Théard C; Touraine P; Robevska G; van van den Bergen J; Ayers KL; Sinclair AH; Dötsch V; Jaillard S
Hum Mutat; 2022 Oct; 43(10):1443-1453. PubMed ID: 35801529
[TBL] [Abstract][Full Text] [Related]
2. TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ; Jaillard S; Grover SR; van den Bergen J; Robevska G; Bell KM; Sadedin S; Hanna C; Dulon J; Touraine P; Sinclair AH
Hum Mutat; 2019 Jul; 40(7):886-892. PubMed ID: 30924587
[TBL] [Abstract][Full Text] [Related]
3. Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.
Vanderschelden RK; Rodriguez-Escriba M; Chan SH; Berman AJ; Rajkovic A; Yatsenko SA
J Assist Reprod Genet; 2023 Sep; 40(9):2211-2218. PubMed ID: 37453019
[TBL] [Abstract][Full Text] [Related]
4. TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.
Fan Y; Chen S; Chu C; Yin X; Jin J; Zhang L; Yan H; Cao Z; Liu R; Xin M; Li L; Yin C
J Ovarian Res; 2024 Mar; 17(1):67. PubMed ID: 38528613
[TBL] [Abstract][Full Text] [Related]
5. TP63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis.
Huang C; Zhao S; Yang Y; Guo T; Ke H; Mi X; Qin Y; Chen ZJ; Zhao S
J Clin Invest; 2023 Mar; 133(5):. PubMed ID: 36856110
[TBL] [Abstract][Full Text] [Related]
6. High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.
Bestetti I; Castronovo C; Sironi A; Caslini C; Sala C; Rossetti R; Crippa M; Ferrari I; Pistocchi A; Toniolo D; Persani L; Marozzi A; Finelli P
Hum Reprod; 2019 Mar; 34(3):574-583. PubMed ID: 30689869
[TBL] [Abstract][Full Text] [Related]
7. The Role of Mutant p63 in Female Fertility.
Luan Y; Xu P; Yu SY; Kim SY
Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445673
[TBL] [Abstract][Full Text] [Related]
8. Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Mathorne SW; Ravn P; Hansen D; Beck-Nielsen SS; Gjørup H; Sørensen KP; Fagerberg CR
Clin Genet; 2020 May; 97(5):779-784. PubMed ID: 32067224
[TBL] [Abstract][Full Text] [Related]
9. AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.
Alvaro Mercadal B; Imbert R; Demeestere I; Gervy C; De Leener A; Englert Y; Costagliola S; Delbaere A
Hum Reprod; 2015 May; 30(5):1196-202. PubMed ID: 25750103
[TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.
Wang Q; Li D; Cai B; Chen Q; Li C; Wu Y; Jin L; Wang X; Zhang X; Zhang F
Hum Genet; 2019 Jan; 138(1):83-92. PubMed ID: 30603774
[TBL] [Abstract][Full Text] [Related]
11. BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.
Renault L; Patiño LC; Magnin F; Delemer B; Young J; Laissue P; Binart N; Beau I
J Clin Endocrinol Metab; 2020 Apr; 105(4):. PubMed ID: 31769494
[TBL] [Abstract][Full Text] [Related]
12. Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
Chen Q; Ke H; Luo X; Wang L; Wu Y; Tang S; Li J; Jin L; Zhang F; Qin Y; Chen X
Hum Mol Genet; 2020 Sep; 29(16):2698-2707. PubMed ID: 32716490
[TBL] [Abstract][Full Text] [Related]
13. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S; Bell K; Akloul L; Walton K; McElreavy K; Stocker WA; Beaumont M; Harrisson C; Jääskeläinen T; Palvimo JJ; Robevska G; Launay E; Satié AP; Listyasari N; Bendavid C; Sreenivasan R; Duros S; van den Bergen J; Henry C; Domin-Bernhard M; Cornevin L; Dejucq-Rainsford N; Belaud-Rotureau MA; Odent S; Ayers KL; Ravel C; Tucker EJ; Sinclair AH
Maturitas; 2020 Nov; 141():9-19. PubMed ID: 33036707
[TBL] [Abstract][Full Text] [Related]
14. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S; McElreavy K; Robevska G; Akloul L; Ghieh F; Sreenivasan R; Beaumont M; Bashamboo A; Bignon-Topalovic J; Neyroud AS; Bell K; Veron-Gastard E; Launay E; van den Bergen J; Nouyou B; Vialard F; Belaud-Rotureau MA; Ayers KL; Odent S; Ravel C; Tucker EJ; Sinclair AH
Mol Hum Reprod; 2020 Sep; 26(9):665-677. PubMed ID: 32634216
[TBL] [Abstract][Full Text] [Related]
15. Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD; van den Boogaard MH; Mehrem SL; Gebel J; Fagerberg C; van Beusekom E; van Binsbergen E; Topaloglu O; Steehouwer M; Gilissen C; Ishorst N; van Rooij IALM; Roeleveld N; Christensen K; Schoenaers J; Bergé S; Murray JC; Hens G; Devriendt K; Ludwig KU; Mangold E; Hoischen A; Zhou H; Dötsch V; Carels CEL; van Bokhoven H
Eur J Hum Genet; 2019 Jul; 27(7):1101-1112. PubMed ID: 30850703
[TBL] [Abstract][Full Text] [Related]
16. Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.
Li J; Peng T; Wang L; Long P; Quan R; Tan H; Zeng M; Wu X; Yang J; Xiao H; Shi X
J Ovarian Res; 2022 Feb; 15(1):31. PubMed ID: 35227295
[TBL] [Abstract][Full Text] [Related]
17. A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.
Li L; Wang B; Zhang W; Chen B; Luo M; Wang J; Wang X; Cao Y; Kee K
Hum Reprod; 2017 Jan; 32(1):248-255. PubMed ID: 27836978
[TBL] [Abstract][Full Text] [Related]
18.
Ramos L
Genes (Basel); 2022 Mar; 13(4):. PubMed ID: 35456418
[TBL] [Abstract][Full Text] [Related]
19. Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency.
Zhen X; Wu B; Wang J; Lu C; Gao H; Qiao J
PLoS One; 2015; 10(7):e0132610. PubMed ID: 26225554
[TBL] [Abstract][Full Text] [Related]
20. EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency.
Shang L; Ren S; Yang X; Zhang F; Jin L; Zhang X; Wu Y
Eur J Med Genet; 2022 Oct; 65(10):104597. PubMed ID: 36030004
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
