Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects

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

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

Mitochondrial Reactive Oxygen Species (ROS) Production Alters Sperm Quality

(2021) Rosanna Chianese et al.   Antioxidants

Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis

(2021) Mohan Liu et al.   GENE

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

(2021) Chaofeng Tu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic and hypermorphic mouse models of Fsip2 indicate its dosage-dependent roles in sperm tail and acrosome formation

(2021) Xiang Fang et al.   DEVELOPMENT

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

(2021) M S Oud et al.   HUMAN REPRODUCTION

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

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

(2020) Yihong Yang et al.   CLINICAL GENETICS

Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice

(2020) Beibei Zhang et al.   CLINICAL GENETICS

ENU-induced mutant allele of Dnah1 , ferf1 , causes abnormal sperm behavior and fertilization failure in mice

(2019) Jianjun Hu et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family

(2019) Ying Ma et al.   FERTILITY AND STERILITY

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

(2019) Yang Li et al.   CLINICAL GENETICS

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria

(2019) Arvand Akbari et al.   HUMAN REPRODUCTION

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients

(2019) Dongliang Zhu et al.   BIOSCIENCE REPORTS

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

(2019) Weiyu Li et al.   JOURNAL OF MEDICAL GENETICS

SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head Morphology and DNA Integrity

(2019) Ya-Yun Wang et al.   Journal of Clinical Medicine

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

(2019) M S Oud et al.   HUMAN REPRODUCTION

Meiosis: the chromosomal foundation of reproduction

(2018) Ewelina Bolcun-Filas et al.   BIOLOGY OF REPRODUCTION

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

(2018) Charles Coutton et al.   Nature Communications

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice

(2018) Luiz G. Guidi et al.   Scientific Reports

CC2D1B Coordinates ESCRT-III Activity during the Mitotic Reformation of the Nuclear Envelope

(2018) Leandro N. Ventimiglia et al.   DEVELOPMENTAL CELL

A homozygous RNF220 mutation leads to male infertility with small-headed sperm

(2018) Xiaohui Jiang et al.   GENE

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

(2017) Maram Arafat et al.   JOURNAL OF MEDICAL GENETICS

Globozoospermia and lack of acrosome formation in GM130-deficient mice

(2017) Feng Han et al.   Cell Death & Disease

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

(2016) Olivier Patat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

(2016) Amir Amiri-Yekta et al.   HUMAN REPRODUCTION

Prevalence of infertility and help seeking among 15 000 women and men

(2016) J. Datta et al.   HUMAN REPRODUCTION

Towards defining an ‘origin’—The case for the mammalian acrosome

(2016) Giovanna Berruti   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Teratozoospermia: spotlight on the main genetic actors in the human

(2015) C. Coutton et al.   HUMAN REPRODUCTION UPDATE

Central role of soluble adenylyl cyclase and cAMP in sperm physiology

(2014) Mariano G. Buffone et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Lack of testicular seipin causes teratozoospermia syndrome in men

(2014) M. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chromatin dynamics during spermiogenesis

(2013) Christina Rathke et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

SEPT12-Microtubule Complexes Are Required for Sperm Head and Tail Formation

(2013) Pao-Lin Kuo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

(2012) V. Pierre et al.   DEVELOPMENT

SEPT12mutations cause male infertility with defective sperm annulus

(2012) Yung-Che Kuo et al.   HUMAN MUTATION

SEPTIN12 Genetic Variants Confer Susceptibility to Teratozoospermia

(2012) Ying-Hung Lin et al.   PLoS One

National, Regional, and Global Trends in Infertility Prevalence Since 1990: A Systematic Analysis of 277 Health Surveys

(2012) Maya N. Mascarenhas et al.   PLOS MEDICINE

DPY19L2 Deletion as a Major Cause of Globozoospermia

(2011) Isabelle Koscinski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men

(2011) Alexander N. Yatsenko et al.   MOLECULAR HUMAN REPRODUCTION

A newly discovered mutation in PICK1 in a human with globozoospermia

(2010) Gang Liu et al.   ASIAN JOURNAL OF ANDROLOGY

USP8, a Regulator of Endosomal Sorting, Is Involved in Mouse Acrosome Biogenesis Through Interaction with the Spermatid ESCRT-0 Complex and Microtubules1

(2010) Giovanna Berruti et al.   BIOLOGY OF REPRODUCTION

SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos

(2010) Ying-Hung Lin et al.   FERTILITY AND STERILITY

The TDRD9-MIWI2 Complex Is Essential for piRNA-Mediated Retrotransposon Silencing in the Mouse Male Germline

(2009) Masanobu Shoji et al.   DEVELOPMENTAL CELL

PICK1 deficiency causes male infertility in mice by disrupting acrosome formation

(2009) Nan Xiao et al.   JOURNAL OF CLINICAL INVESTIGATION

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS