Cargando…

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development

PURPOSE: This study aims to identify genetic causes of female infertility associated with recurrent failure of assisted reproductive technology (ART) characterized by embryonic developmental arrest. METHODS: We recruited infertile patients from two consanguineous families from the Reproductive Medic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Juan, Tan, Zongjian, He, Jun, Jin, Tingting, Han, Yuanyuan, Hu, Li, Huang, Shengwen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266952/ https://www.ncbi.nlm.nih.gov/pubmed/34036456 http://dx.doi.org/10.1007/s10815-021-02194-1

Ejemplares similares

Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality
por: Zhang, Manyu, et al.
Publicado: (2021)

Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest
por: Xu, Yao, et al.
Publicado: (2022)

A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility
por: Akbari, Mojdeh, et al.
Publicado: (2022)

A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest
por: Cao, Guangyi, et al.
Publicado: (2023)

Author Correction: A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility
por: Akbari, Mojdeh, et al.
Publicado: (2022)

A complex heterozygous mutation in PADI6 causes early embryo arrest: A case report
por: Zhang, Ting, et al.
Publicado: (2023)

TLE6 mutation causes the earliest known human embryonic lethality
por: Alazami, Anas M., et al.
Publicado: (2015)

A novel homozygous mutation in the PADI6 gene causes early embryo arrest
por: Wang, Xiaoxia, et al.
Publicado: (2022)

Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest
por: Sun, Liwei, et al.
Publicado: (2022)

A novel TLE6 mutation, c.541+1G>A, identified using whole‐exome sequencing in a Chinese family with female infertility
por: Mao, Bin, et al.
Publicado: (2021)

Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation
por: Zhang, Yin‐Li, et al.
Publicado: (2021)

Editorial: Genetics of female infertility
por: Bazrgar, Masood, et al.
Publicado: (2023)

Grg3/TLE3 and Grg1/TLE1 Induce Monohormonal Pancreatic β-Cells While Repressing α-Cell Functions
por: Metzger, David E., et al.
Publicado: (2014)

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
por: Tong, Xiaomei, et al.
Publicado: (2022)

Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy
por: Buono, Russell J., et al.
Publicado: (2021)

Target-Sequencing of Female Infertility Pathogenic Gene Panel and a Novel TUBB8 Loss-of-Function Mutation
por: Yuan, Hongxia, et al.
Publicado: (2022)

Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report
por: Robles Bocanegra, Andrea, et al.
Publicado: (2023)

XRCC2 mutation causes meiotic arrest, azoospermia and infertility
por: Yang, Yongjia, et al.
Publicado: (2018)

Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency
por: Marongiu, Mara, et al.
Publicado: (2022)

Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family
por: Gao, Yang, et al.
Publicado: (2021)

PADI4 and tumourigenesis
por: Chang, Xiaotian, et al.
Publicado: (2010)

Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development
por: Zhao, Lin, et al.
Publicado: (2020)

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility
por: Pereira, R., et al.
Publicado: (2023)

Growth arrest-specific gene 6 expression in human breast cancer
por: Mc Cormack, O, et al.
Publicado: (2008)

The role of IL‐6/JAK/STAT signal in female infertility caused by hydrosalpinx
por: Deng, Jia, et al.
Publicado: (2023)

The m6A Methyltransferase METTL3 Is Functionally Implicated in DLBCL Development by Regulating m6A Modification in PEDF
por: Cheng, Yingying, et al.
Publicado: (2020)

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
por: Cubellis, Maria Vittoria, et al.
Publicado: (2020)

TLE1 function and therapeutic potential in cancer
por: Yuan, Da, et al.
Publicado: (2016)

A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis
por: Shah, Idrees A., et al.
Publicado: (2023)

Novel Hemizygous Mutations of TEX11 Cause Meiotic Arrest and Non-obstructive Azoospermia in Chinese Han Population
por: Ji, Zhiyong, et al.
Publicado: (2021)

PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family
por: Williams, Jack P. C., et al.
Publicado: (2023)

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis
por: Lan, Yueyun, et al.
Publicado: (2021)

Transcriptomic analysis of PADI4 target genes during multi-lineage differentiation of embryonic stem cells
por: Singh, Anup Kumar, et al.
Publicado: (2023)

A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops
por: Han, Shuai, et al.
Publicado: (2022)

A Novel Mutation of the KLK6 Gene in a Family With Knee Osteoarthritis
por: Ge, Yanzhi, et al.
Publicado: (2021)

Identification of three molecular subtypes based on immune infiltration in ovarian cancer and its prognostic value
por: Liu, Juan, et al.
Publicado: (2020)

Delayed puberty, gonadotropin abnormalities and subfertility in male Padi2/Padi4 double knockout mice
por: Sams, Kelly L., et al.
Publicado: (2022)

Deep sequencing shows that accumulation of potentially pathogenic mtDNA mutations rather than mtDNA copy numbers may be associated with early embryonic loss
por: Ji, Licheng, et al.
Publicado: (2020)

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
por: Adadey, Samuel M., et al.
Publicado: (2019)

Expression of Groucho/TLE proteins during pancreas development
por: Hoffman, Brad G, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_ip49a6hu99vhavmvsstgsbv99k