Cargando…

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations...

Descripción completa

Detalles Bibliográficos
Autores principales:	Khan, Ihsan, Shah, Basit, Dil, Sobia, Ullah, Nadeem, Zhou, Jian-Teng, Zhao, Da-Ren, Zhang, Yuan-Wei, Jiang, Xiao-Hua, Khan, Ranjha, Khan, Asad, Ali, Haider, Zubair, Muhammad, Shah, Wasim, Zhang, Huan, Shi, Qing-Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8577262/ https://www.ncbi.nlm.nih.gov/pubmed/34100391 http://dx.doi.org/10.4103/aja.aja_26_21

Ejemplares similares

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

Essential Role of CFAP53 in Sperm Flagellum Biogenesis
por: Wu, Bingbing, et al.
Publicado: (2021)

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
por: Coutton, Charles, et al.
Publicado: (2018)

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
por: Wang, Weili, et al.
Publicado: (2019)

The Molecular Mechanism of Sex Hormones on Sertoli Cell Development and Proliferation
por: Shah, Wasim, 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)

Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection
por: Ma, Jing, et al.
Publicado: (2023)

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 cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice
por: Wu, Bingbing, 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)

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

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities
por: Morimoto, Yoshiro, et al.
Publicado: (2019)

The WD40-protein CFAP52/WDR16 is a centrosome/basal body protein and localizes to the manchette and the flagellum in male germ cells
por: Tapia Contreras, Constanza, et al.
Publicado: (2020)

Iqcg Is Essential for Sperm Flagellum Formation in Mice
por: Li, Ren-Ke, et al.
Publicado: (2014)

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
por: Pastore, Stephen F., et al.
Publicado: (2021)

Pre-existing resistance associated polymorphisms to NS3 protease inhibitors in treatment naïve HCV positive Pakistani patients
por: Khan, Hafeez Ullah, et al.
Publicado: (2020)

3D structure and in situ arrangements of CatSper channel in the sperm flagellum
por: Zhao, Yanhe, 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)

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
por: Kousar, Rizwana, et al.
Publicado: (2011)

Relationships between the Mini-InDel Variants within the Goat CFAP43 Gene and Body Traits
por: Mi, Fang, 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)

Sperm Flagellum Volume Determines Freezability in Red Deer Spermatozoa
por: Ros-Santaella, José Luis, et al.
Publicado: (2014)

THE SPERMATOZOON OF ARTHROPODA : VIII. The 9 + 3 Flagellum of Spider Sperm Cells
por: Baccetti, Baccio, et al.
Publicado: (1970)

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum
por: Nsota Mbango, Jean-Fabrice, et al.
Publicado: (2019)

CCDC189 affects sperm flagellum formation by interacting with CABCOCO1
por: Wang, Mengyue, et al.
Publicado: (2023)

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella
por: Liu, Mohan, et al.
Publicado: (2023)

Biallelic mutations in WDR12 are associated with male infertility with tapered-head sperm
por: Hua, Juan, et al.
Publicado: (2022)

Anatomy of Nutrient Foramina of Adult Humerii in the Pakistani Population: A Cross-Sectional Study
por: Haris, Muhammad, et al.
Publicado: (2021)

Cyclic Nucleotide-gated Channels on the Flagellum Control Ca(2+) Entry into Sperm
por: Wiesner, Burkhard, et al.
Publicado: (1998)

Spatiotemporal association of DNAJB13 with the annulus during mouse sperm flagellum development
por: Guan, Jikui, et al.
Publicado: (2009)

Spotlight on the Binding Affinity of Ion Channels for Phosphoinositides: From the Study of Sperm Flagellum
por: Kawai, Takafumi, et al.
Publicado: (2022)

Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum
por: Pereira, Rute, et al.
Publicado: (2023)

Early postoperative recurrences for colon cancer: Results from a Pakistani rural cohort
por: Khan, Shah Zeb, et al.
Publicado: (2020)

Resistance to grain protectants and synergism in Pakistani strains of Sitophilus oryzae (Coleoptera: Curculionidae)
por: Khan, Tiyyabah, et al.
Publicado: (2022)

A Comparative Study of the Efficacy and Safety of Oral Misoprostol, Intravenous Oxytocin, and Intravaginal Dinoprostone for Labor Induction in Pakistani Women
por: Wasim, Asad Ullah, et al.
Publicado: (2023)

Rare bleeding disorders: spectrum of disease and clinical manifestations in the Pakistani population
por: Mahmood, Rafia, et al.
Publicado: (2020)

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)

Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia
por: McKenzie, Casey W., et al.
Publicado: (2020)

Successful Results of Intracytoplasmic Sperm Injection of a Chinese Patient With Multiple Morphological Abnormalities of Sperm Flagella Caused by a Novel Splicing Mutation in CFAP251
por: Wang, Jiaxiong, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ruoa0501lhpdngc9qdogus0qu2