Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

(2021) Chunyu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

(2020) Lucie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic architecture of morphological abnormalities of the sperm tail

(2020) Aminata Touré et al.   HUMAN GENETICS

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

(2020) Chaofeng Tu et al.   HUMAN GENETICS

Haploid male germ cells—the Grand Central Station of protein transport

(2020) Christiane Pleuger et al.   HUMAN REPRODUCTION UPDATE

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

(2020) Chunyu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice

(2020) Xiaojin He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella

(2020) Yihong Yang et al.   CLINICAL GENETICS

Multiple morphological abnormalities of the sperm flagella (MMAF)-associated genes: The relationships between genetic variation and litter size in goats

(2020) Zhen Wang et al.   GENE

Male infertility

(2020) Ashok Agarwal et al.   LANCET

Interactions of the dynein-2 intermediate chain WDR34 with the light chains are required for ciliary retrograde protein trafficking

(2019) Yuta Tsurumi et al.   MOLECULAR BIOLOGY OF THE CELL

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

(2019) Ying Shen et al.   Nature Communications

DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella

(2019) Yang Li et al.   CLINICAL GENETICS

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

(2019) Charles Coutton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

(2019) Wangjie Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

(2019) Chunyu Liu et al.   JOURNAL OF MEDICAL GENETICS

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

(2019) Marjorie Whitfield et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

(2019) Weili Wang et al.   JOURNAL OF MEDICAL GENETICS

Asthenozoospermia: Cellular and molecular contributing factors and treatment strategies

(2019) Seyedeh Zahra Shahrokhi et al.   ANDROLOGIA

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

(2019) Anu Sironen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

(2019) Chaofeng Tu et al.   Scientific Reports

Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice

(2019) Chunyu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

(2018) Weiyu Li et al.   JOURNAL OF HUMAN GENETICS

A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)

(2017) Yan-Wei Sha et al.   GENE

Ciliary protein trafficking mediated by IFT and BBSome complexes with the aid of kinesin-2 and dynein-2 motors

(2017) Kazuhisa Nakayama et al.   JOURNAL OF BIOCHEMISTRY

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Patients with multiple morphological abnormalities of the sperm flagella due toDNAH1mutations have a good prognosis following intracytoplasmic sperm injection

(2016) Clémentine Wambergue et al.   HUMAN REPRODUCTION

The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility

(2016) Richard W. Linck et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Fine-Tuning Motile Cilia and Flagella: Evolution of the Dynein Motor Proteins from Plants to Humans at High Resolution

(2016) Martin Kollmar   MOLECULAR BIOLOGY AND EVOLUTION

Axoneme Structure from Motile Cilia

(2016) Takashi Ishikawa   Cold Spring Harbor Perspectives in Biology

The Intraflagellar Transport Machinery

(2016) Michael Taschner et al.   Cold Spring Harbor Perspectives in Biology

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

IFT–Cargo Interactions and Protein Transport in Cilia

(2015) Karl F. Lechtreck   TRENDS IN BIOCHEMICAL SCIENCES

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Big steps toward understanding dynein

(2013) Masahide Kikkawa   JOURNAL OF CELL BIOLOGY

Functions and mechanics of dynein motor proteins

(2013) Anthony J. Roberts et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alternative splicing, promoter methylation, and functional SNPs of sperm flagella 2 gene in testis and mature spermatozoa of Holstein bulls

(2013) F Guo et al.   REPRODUCTION

Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1

(2011) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

Sperm flagella: comparative and phylogenetic perspectives of protein components

(2011) K. Inaba   MOLECULAR HUMAN REPRODUCTION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

World Health Organization reference values for human semen characteristics*‡

(2009) Trevor G. Cooper et al.   HUMAN REPRODUCTION UPDATE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols