207 related articles for article (PubMed ID: 38528613)
1. 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]
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. 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]
4. 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]
5. 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]
6. A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.
Zhe J; Chen S; Chen X; Liu Y; Li Y; Zhou X; Zhang J
J Ovarian Res; 2019 Jul; 12(1):61. PubMed ID: 31279343
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.
Zhang Q; Zhang W; Wu X; Ke H; Qin Y; Zhao S; Guo T
Hum Reprod; 2023 Nov; 38(Supplement_2):ii47-ii56. PubMed ID: 37982418
[TBL] [Abstract][Full Text] [Related]
9. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.
Wang B; Li L; Zhu Y; Zhang W; Wang X; Chen B; Li T; Pan H; Wang J; Kee K; Cao Y
Hum Reprod; 2017 Oct; 32(10):2138-2146. PubMed ID: 28938739
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks.
Caburet S; Todeschini AL; Petrillo C; Martini E; Farran ND; Legois B; Livera G; Younis JS; Shalev S; Veitia RA
EBioMedicine; 2019 Apr; 42():524-531. PubMed ID: 31000419
[TBL] [Abstract][Full Text] [Related]
14. Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.
Hyon C; Mansour-Hendili L; Chantot-Bastaraud S; Donadille B; Kerlan V; Dodé C; Jonard S; Delemer B; Gompel A; Reznik Y; Touraine P; Siffroi JP; Christin-Maitre S
J Clin Endocrinol Metab; 2016 May; 101(5):2099-104. PubMed ID: 27003306
[TBL] [Abstract][Full Text] [Related]
15. New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
Patiño LC; Beau I; Carlosama C; Buitrago JC; González R; Suárez CF; Patarroyo MA; Delemer B; Young J; Binart N; Laissue P
Hum Reprod; 2017 Jul; 32(7):1512-1520. PubMed ID: 28505269
[TBL] [Abstract][Full Text] [Related]
16. Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
Zhang T; Ma Q; Shen Q; Jiang C; Zou F; Shen Y; Wang Y
J Assist Reprod Genet; 2022 Sep; 39(9):2125-2134. PubMed ID: 35861920
[TBL] [Abstract][Full Text] [Related]
17. Homozygous variants in
He WB; Tan C; Zhang YX; Meng LL; Gong F; Lu GX; Lin G; Du J; Tan YQ
J Med Genet; 2021 Mar; 58(3):168-172. PubMed ID: 32303603
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.
Chen B; Li L; Wang J; Li T; Pan H; Liu B; Zhou Y; Cao Y; Wang B
J Ovarian Res; 2018 Jun; 11(1):48. PubMed ID: 29914564
[TBL] [Abstract][Full Text] [Related]
20. Correction: 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 Apr; 17(1):93. PubMed ID: 38685112
[No Abstract] [Full Text] [Related]
[Next] [New Search]