Detalhe da pesquisa
1.
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Mol Cell
; 84(6): 1021-1035.e11, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359823
2.
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Am J Hum Genet
; 109(8): 1458-1471, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35809576
3.
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
Am J Hum Genet
; 109(10): 1850-1866, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150389
4.
Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane Ca2+ signaling.
EMBO J
; 39(4): e102363, 2020 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957048
5.
WWC2 expression in the testis: Implications for spermatogenesis and male fertility.
FASEB J
; 37(5): e22912, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086090
6.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
PLoS Genet
; 17(2): e1009306, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33635866
7.
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility.
J Assist Reprod Genet
; 41(3): 751-756, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277113
8.
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
Am J Hum Genet
; 106(1): 41-57, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31866047
9.
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Am J Hum Genet
; 107(2): 342-351, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32673564
10.
The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.
Biol Chem
; 404(4): 241-254, 2023 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809224
11.
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
Hum Reprod
; 38(7): 1412-1423, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37208861
12.
Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.
Hum Reprod
; 38(4): 655-670, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807972
13.
The Ca2+ channel CatSper is not activated by cAMP/PKA signaling but directly affected by chemicals used to probe the action of cAMP and PKA.
J Biol Chem
; 295(38): 13181-13193, 2020 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703901
14.
The X chromosome and male infertility.
Hum Genet
; 140(1): 203-215, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31875237
15.
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Hum Genet
; 140(1): 217-227, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33211200
16.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hum Genet
; 140(8): 1169-1182, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963445
17.
Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?
Cell Physiol Biochem
; 55(3): 301-310, 2021 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34148308
18.
Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes.
Hum Reprod
; 36(5): 1376-1382, 2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704441
19.
The ReproGenomics Viewer: a multi-omics and cross-species resource compatible with single-cell studies for the reproductive science community.
Bioinformatics
; 35(17): 3133-3139, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668675
20.
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Genet Med
; 22(12): 1956-1966, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741963