Patino LC - Search Results

1

TGF-β uncouples glycolysis and inflammation in macrophages and controls survival during sepsis.

Gauthier T, Yao C, Dowdy T, Jin W, Lim YJ, Patiño LC, Liu N, Ohlemacher SI, Bynum A, Kazmi R, Bewley CA, Mitrovic M, Martin D, Morell RJ, Eckhaus M, Larion M, Tussiwand R, O'Shea JJ, Chen W. Gauthier T, et al. Among authors: patino lc. Sci Signal. 2023 Aug 8;16(797):eade0385. doi: 10.1126/scisignal.ade0385. Epub 2023 Aug 8. Sci Signal. 2023. PMID: 37552767

2

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. Renault L, et al. Among authors: patino lc. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz226. doi: 10.1210/clinem/dgz226. J Clin Endocrinol Metab. 2020. PMID: 31769494

3

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.

Patiño LC, Beau I, Morel A, Delemer B, Young J, Binart N, Laissue P. Patiño LC, et al. Hum Mutat. 2019 Jan;40(1):25-30. doi: 10.1002/humu.23667. Epub 2018 Oct 22. Hum Mutat. 2019. PMID: 30304577

4

ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.

Delcour C, Amazit L, Patino LC, Magnin F, Fagart J, Delemer B, Young J, Laissue P, Binart N, Beau I. Delcour C, et al. Among authors: patino lc. Genet Med. 2019 Apr;21(4):930-938. doi: 10.1038/s41436-018-0287-y. Epub 2018 Sep 19. Genet Med. 2019. PMID: 30224786 Free article.

5

A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency.

Carlosama C, Patiño LC, Beau I, Morel A, Delemer B, Young J, Binart N, Laissue P. Carlosama C, et al. Among authors: patino lc. Clin Endocrinol (Oxf). 2018 Aug;89(2):245-246. doi: 10.1111/cen.13749. Epub 2018 Jun 14. Clin Endocrinol (Oxf). 2018. PMID: 29808484 No abstract available.

6

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P. Carlosama C, et al. Among authors: patino lc. Hum Mol Genet. 2017 Aug 15;26(16):3161-3166. doi: 10.1093/hmg/ddx199. Hum Mol Genet. 2017. PMID: 28541421

7

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. Patiño LC, et al. Hum Reprod. 2017 Jul 1;32(7):1512-1520. doi: 10.1093/humrep/dex089. Hum Reprod. 2017. PMID: 28505269

8

BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9.

Patiño LC, Walton KL, Mueller TD, Johnson KE, Stocker W, Richani D, Agapiou D, Gilchrist RB, Laissue P, Harrison CA. Patiño LC, et al. J Clin Endocrinol Metab. 2017 Mar 1;102(3):1009-1019. doi: 10.1210/jc.2016-3503. J Clin Endocrinol Metab. 2017. PMID: 28359091

9

A potential functional association between mutant BMPR2 and primary ovarian insufficiency.

Patiño LC, Silgado D, Laissue P. Patiño LC, et al. Syst Biol Reprod Med. 2017 Jun;63(3):145-149. doi: 10.1080/19396368.2017.1291767. Epub 2017 Mar 17. Syst Biol Reprod Med. 2017. PMID: 28306340

10

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Fonseca DJ, Patiño LC, Suárez YC, de Jesús Rodríguez A, Mateus HE, Jiménez KM, Ortega-Recalde O, Díaz-Yamal I, Laissue P. Fonseca DJ, et al. Among authors: patino lc. Fertil Steril. 2015 Jul;104(1):154-62.e2. doi: 10.1016/j.fertnstert.2015.04.016. Epub 2015 May 16. Fertil Steril. 2015. PMID: 25989972 Free article.

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