Cargando…

Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice

Male infertility is a prevalent disorder distressing an estimated 70 million people worldwide. Despite continued progress in understanding the causes of male infertility, idiopathic sperm abnormalities such as multiple morphological abnormalities of sperm flagella (MMAF) still account for about 30%...

Descripción completa

Detalles Bibliográficos
Autores principales:	Khan, Ranjha, Zaman, Qumar, Chen, Jing, Khan, Manan, Ma, Ao, Zhou, Jianteng, Zhang, Beibei, Ali, Asim, Naeem, Muhammad, Zubair, Muhammad, Zhao, Daren, Shah, Wasim, Khan, Mazhar, Zhang, Yuanwei, Xu, Bo, Zhang, Huan, Shi, Qinghua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8635859/ https://www.ncbi.nlm.nih.gov/pubmed/34867808 http://dx.doi.org/10.3389/fendo.2021.765639

Ejemplares similares

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
por: Zhang, Beibei, et al.
Publicado: (2019)

Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility
por: Ma, Ao, et al.
Publicado: (2022)

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans
por: Fan, Suixing, et al.
Publicado: (2021)

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans
por: Fan, Suixing, et al.
Publicado: (2022)

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans
por: Xie, Xuefeng, et al.
Publicado: (2022)

Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans
por: Shi, Baolu, et al.
Publicado: (2023)

A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals
por: Gong, Chenjia, et al.
Publicado: (2022)

Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice
por: Ma, Ao, et al.
Publicado: (2023)

PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data
por: Zhou, Jianteng, et al.
Publicado: (2020)

Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice
por: Liu, Wei, et al.
Publicado: (2022)

A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family
por: Dil, Sobia, et al.
Publicado: (2022)

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms
por: Zubair, Muhammad, et al.
Publicado: (2022)

A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans
por: Hou, Xiaoning, et al.
Publicado: (2023)

Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families
por: Zamani, Ghazala Y., et al.
Publicado: (2022)

Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report
por: Zhang, Lili, et al.
Publicado: (2020)

The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice
por: Khan, Manan, et al.
Publicado: (2018)

Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
por: Liu, Junyan, et al.
Publicado: (2023)

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families
por: Khan, Ihsan, et al.
Publicado: (2021)

Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia
por: Tang, Dongdong, et al.
Publicado: (2021)

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients
por: Zhu, Dongliang, et al.
Publicado: (2019)

MeiosisOnline: A Manually Curated Database for Tracking and Predicting Genes Associated With Meiosis
por: Jiang, Xiaohua, et al.
Publicado: (2021)

Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility
por: Yin, Hao, et al.
Publicado: (2018)

A homozygous FANCM frameshift pathogenic variant causes male infertility
por: Yin, Hao, et al.
Publicado: (2018)

Novel homozygous mutations of DNAH5 in Kartagener syndrome
por: Cheng, Xian-Dong, et al.
Publicado: (2021)

Real-time recognition of spraying area for UAV sprayers using a deep learning approach
por: Khan, Shahbaz, et al.
Publicado: (2021)

Computational analysis of Cyclin D1 gene SNPs and association with breast cancer
por: Aftab, Ayesha, et al.
Publicado: (2021)

FertilityOnline: A Straightforward Pipeline for Functional Gene Annotation and Disease Mutation Discovery
por: Gao, Jianing, et al.
Publicado: (2022)

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
por: Li, You, et al.
Publicado: (2016)

Variation in DNAH1 may contribute to primary ciliary dyskinesia
por: Imtiaz, Faiqa, et al.
Publicado: (2015)

A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia
por: Huang, Fei, et al.
Publicado: (2023)

A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation
por: Fan, Suixing, et al.
Publicado: (2023)

Improved biomedical term selection in pseudo relevance feedback
por: Nabeel Asim, Muhammad, et al.
Publicado: (2018)

Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study
por: Yang, Xiao, et al.
Publicado: (2018)

Epigenetic regulation of HIV-1 latency: focus on polycomb group (PcG) proteins
por: Khan, Sheraz, et al.
Publicado: (2018)

Somatic mutation of DNAH genes implicated higher chemotherapy response rate in gastric adenocarcinoma patients
por: Zhu, Chunchao, et al.
Publicado: (2019)

Role of Lipid Metabolism and Signaling in Mammalian Oocyte Maturation, Quality, and Acquisition of Competence
por: Khan, Ranjha, et al.
Publicado: (2021)

CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family
por: Ghouchanatigh, Mahdieh Daliri, et al.
Publicado: (2021)

A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations
por: Orimo, Mami, et al.
Publicado: (2019)

Multiomics Analysis of a DNAH5-Mutated PCD Organoid Model Revealed the Key Role of the TGF-β/BMP and Notch Pathways in Epithelial Differentiation and the Immune Response in DNAH5-Mutated Patients
por: Yang, Wenhao, et al.
Publicado: (2022)

Visceral Injuries in Patients with Blunt and Penetrating Abdominal Trauma Presenting to a Tertiary Care Facility in Karachi, Pakistan
por: Naeem, Bushra Kiran, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_2fd8pu4siq2h8bv9003jghucl1