4.4 Article

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility

Shushu Zhou et al.

Summary: This study introduces a clinical case of male infertility with normal sperm count and morphological structure, but low motility and weak forward movement. Whole-exome sequencing revealed a mutation in the TCTE1 gene, causing rapid degradation of the TCTE1 protein and male infertility.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

Article Genetics & Heredity

Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families

Lin Wang et al.

Summary: In this study, RSPH4A variants were found to be associated with dysfunctional sperm flagellum and motile cilia in the respiratory tract. The findings enrich the genetic spectrum and clinical phenotypes of RSPH4A variants in PCD.

FRONTIERS IN GENETICS (2022)

Article Genetics & Heredity

The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient

Yaqian Li et al.

Summary: This study identified a synonymous mutation in LRRC6 as a new genetic cause of PCD, contributing to defective sperm flagella and poor sperm motility. Patients with LRRC6 mutations may have positive outcomes with ICSI treatment for male infertility associated with PCD.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

Article Critical Care Medicine

Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China

Yuhong Guan et al.

Summary: In China, pediatric primary ciliary dyskinesia mainly presents with chronic wet cough, recurrent sinusitis, and bronchiectasis. Commonly observed gene mutations include DNAH11 and DNAH5, with the novel gene DNAH14 also associated with the disease.
Article Genetics & Heredity

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

Isabella Aprea et al.

Summary: Male fertility issues worldwide may be caused by defects in the preassembly of outer and inner dynein arms, leading to abnormal sperm flagella, impaired sperm motility, and infertility. Studying sperm cells of individuals with mutations in genes related to this process helps understand the clinical relevance of preassembly of dynein arms on male fertility.

PLOS GENETICS (2021)

Article Biochemistry & Molecular Biology

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

Jintao Zhang et al.

Summary: The study identified DRC1 as an essential regulator of N-DRC assembly in cilia and flagella, with its deficiency resulting in cilia shortening and impaired flagella structural stability, particularly pronounced in sperm flagella.

HUMAN MOLECULAR GENETICS (2021)

Article Genetics & Heredity

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Xinyue Zhao et al.

Summary: This study demonstrates the clinical utility of combining WES and low-pass WGS as a non-bias detecting tool in adult patients with PCD. They found a detection rate of 73.1% in Chinese PCD patients, with DNAH5 being the most frequently mutated gene.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Review Obstetrics & Gynecology

Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility

Zohreh Heidary et al.

HUMAN FERTILITY (2020)

Article Genetics & Heredity

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Mahmoud R. Fassad et al.

CLINICAL GENETICS (2020)

Article Multidisciplinary Sciences

The genetics of situs inversus without primary ciliary dyskinesia

Merel C. Postema et al.

SCIENTIFIC REPORTS (2020)

Article Respiratory System

Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia

Alex Gileles-Hillel et al.

ERJ OPEN RESEARCH (2020)

Article Multidisciplinary Sciences

Establishment of the early cilia preassembly protein complex during motile ciliogenesis

Amjad Horani et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Review Genetics & Heredity

Genetic abnormalities leading to qualitative defects of sperm morphology or function

P. F. Ray et al.

CLINICAL GENETICS (2017)

Letter Respiratory System

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association

Gert Jan Vanaken et al.

EUROPEAN RESPIRATORY JOURNAL (2017)

Article Genetics & Heredity

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Review Respiratory System

Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis

Samuel. A. Collins et al.

EUROPEAN RESPIRATORY JOURNAL (2014)

Article Multidisciplinary Sciences

LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

Amjad Horani et al.

PLOS ONE (2013)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Review Respiratory System

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

A. Barbato et al.

EUROPEAN RESPIRATORY JOURNAL (2009)

Article Critical Care Medicine

Mutations of DNAI1 in primary ciliary dyskinesia -: Evidence of founder effect in a common mutation

Maimoona A. Zariwala et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2006)