Detalles de la búsqueda
1.
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Am J Hum Genet
; 105(6): 1148-1167, 2019 12 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31735292
2.
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
; 140(7): 1031-1043, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33689014
3.
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
Am J Hum Genet
; 102(4): 636-648, 2018 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29606301
4.
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
Clin Genet
; 99(5): 684-693, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33462806
5.
Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum.
Hum Reprod
; 36(11): 2848-2860, 2021 10 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34529793
6.
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Hum Mol Genet
; 27(7): 1196-1211, 2018 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29365104
7.
BAF60A mediates interactions between the microphthalmia-associated transcription factor and the BRG1-containing SWI/SNF complex during melanocyte differentiation.
J Cell Physiol
; 234(7): 11780-11791, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30515787
8.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Am J Hum Genet
; 99(2): 489-500, 2016 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27486783
9.
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Clin Genet
; 94(6): 575-580, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30221343
10.
Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.
Mol Reprod Dev
; 85(8-9): 682-695, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30118583
11.
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Hum Mol Genet
; 28(6): 1052, 2019 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30517620
12.
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
; 140(7): 1045, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33770252
13.
Deletion of MgcRacGAP in the male germ cells impairs spermatogenesis and causes male sterility in the mouse.
Dev Biol
; 386(2): 419-27, 2014 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24355749
14.
In-vitro effects of Thymus munbyanus essential oil and thymol on human sperm motility and function.
Reprod Biomed Online
; 31(3): 411-20, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26194886
15.
The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.
Hum Mol Genet
; 21(6): 1287-98, 2012 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22121115
16.
Escherichia coli producing CNF1 toxin hijacks Tollip to trigger Rac1-dependent cell invasion.
Traffic
; 12(5): 579-90, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21291504
17.
Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.
iScience
; 26(8): 107354, 2023 Aug 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37520705
18.
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Elife
; 122023 11 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37934199
19.
Activated Rac1, but not the tumorigenic variant Rac1b, is ubiquitinated on Lys 147 through a JNK-regulated process.
FEBS J
; 275(2): 386-96, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18093184
20.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Nat Commun
; 9(1): 686, 2018 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29449551