Cargando…

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

Mostrar otras versiones (1)

Detalles Bibliográficos
Autores principales:	Fan, Suixing, Jiao, Yuying, Khan, Ranjha, Jiang, Xiaohua, Javed, Abdul Rafay, Ali, Asim, Zhang, Huan, Zhou, Jianteng, Naeem, Muhammad, Murtaza, Ghulam, Li, Yang, Yang, Gang, Zaman, Qumar, Zubair, Muhammad, Guan, Haiyang, Zhang, Xingxia, Ma, Hui, Jiang, Hanwei, Ali, Haider, Dil, Sobia, Shah, Wasim, Ahmad, Niaz, Zhang, Yuanwei, Shi, Qinghua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Correction
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300872/ https://www.ncbi.nlm.nih.gov/pubmed/35803236 http://dx.doi.org/10.1016/j.ajhg.2022.06.006

Ejemplares similares

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

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans
por: Xie, Xuefeng, 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)

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

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

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

Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice
por: Khan, Ranjha, et al.
Publicado: (2021)

Nuclear translocation of MTL5 from cytoplasm requires its direct interaction with LIN9 and is essential for male meiosis and fertility
por: Zhang, Xingxia, et al.
Publicado: (2021)

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)

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

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

RAD51AP2 is required for efficient meiotic recombination between X and Y chromosomes
por: Ma, Hui, et al.
Publicado: (2022)

MBOAT1 homozygous missense variant causes nonobstructive azoospermia
por: Wan, Yang-Yang, et al.
Publicado: (2021)

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

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

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)

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)

The Molecular Mechanism of Sex Hormones on Sertoli Cell Development and Proliferation
por: Shah, Wasim, et al.
Publicado: (2021)

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 loss-of-function mutation in RAD51AP2 induces male infertility with nonobstructive azoospermia
por: Liu, Liu, 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)

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

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

Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region
por: Deng, Chen-Yao, et al.
Publicado: (2022)

Review of Azoospermia
por: Wosnitzer, Matthew, et al.
Publicado: (2014)

Genetics of Azoospermia
por: Cioppi, Francesca, et al.
Publicado: (2021)

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families
por: Noman, Muhammad, et al.
Publicado: (2019)

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment
por: Kakar, Mohib Ullah, et al.
Publicado: (2022)

Glycated Albumin and Angiopoietin-2: Possible indicators of Diabetic Retinopathy in Type-Two Diabetes
por: Ijaz, Kanwal, et al.
Publicado: (2022)

Prediction of microdissection testicular sperm extraction outcome in men with idiopathic nonobstruction azoospermia
por: Zhang, Han, et al.
Publicado: (2020)

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia
por: Xin, Xing, et al.
Publicado: (2023)

Panhypopituitarism presenting as azoospermia
por: Kumar, K. V. S. Hari, et al.
Publicado: (2012)

The epidemiology and etiology of azoospermia
por: Cocuzza, Marcello, et al.
Publicado: (2013)

Azoospermia: vasal agenesis
por: Fisher, J Sam, et al.
Publicado: (2019)

Characterization of Non-Obstructive Azoospermia in Men Using Gut Microbial Profiling
por: Cao, Yalei, et al.
Publicado: (2023)

The effect of azoospermia factor microdeletions on intracytoplasmic sperm injection results in azoospermia patients
por: Emirdar, Volkan, et al.
Publicado: (2023)

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family
por: Khan, Muhammad Jaseem, et al.
Publicado: (2018)

Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
por: Ullah, Asmat, et al.
Publicado: (2018)

Applications of Biotechnology in Food and Agriculture: a Mini-Review
por: Ranjha, Muhammad Modassar Ali Nawaz, et al.
Publicado: (2022)

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
por: Khan, Shazia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_oa2gb8f0hbvgatrq94jgmr94ts