Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia
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A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter geneAssessment of the frequency of sperm annulus defects in a large cohort of patients presenting asthenozoospermiaThe Genetics of Infertility: Current Status of the Field.A mutation study of sperm head shape and motility in the mouse: lessons for the clinic.A sperm-specific proteome-scale metabolic network model identifies non-glycolytic genes for energy deficiency in asthenozoospermia.Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017.Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.Essential Role of CFTR in PKA-Dependent Phosphorylation, Alkalinization, and Hyperpolarization During Human Sperm Capacitation.A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature.The IP3 R Binding Protein Released With Inositol 1,4,5-Trisphosphate Is Expressed in Rodent Reproductive Tissue and Spermatozoa.
P2860
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P2860
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@ast
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@en
type
label
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@ast
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@en
prefLabel
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@ast
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@en
P2093
P2860
P50
P1476
Missense mutations in SLC26A8, ...... d with human asthenozoospermia
@en
P2093
Baptiste Rode
Caroline Norez
Denise Escalier
Emmanuel Dulioust
Gérard Gacon
Jean-Philippe Wolf
Mathilde Jollivet
Natacha Gaitch
Nathalie Da Silva
Thassadite Dirami
P2860
P304
P356
10.1016/J.AJHG.2013.03.016
P407
P577
2013-04-11T00:00:00Z