Role of genetics and epigenetics in male infertility

Limits of current male fertility testing

(2019) Sergio Oehninger et al.   FERTILITY AND STERILITY

Where are we going with gene screening for male infertility?

(2019) Nannan Thirumavalavan et al.   FERTILITY AND STERILITY

Array-based DNA methylation profiling reveals peripheral blood differential methylation in male infertility

(2019) Saumya Sarkar et al.   FERTILITY AND STERILITY

Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes

(2019) Thais Fenz Araujo et al.   Andrology

Chromosomal and Y‐chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions

(2019) Ummet Abur et al.   ANDROLOGIA

Sperm DNA Methylation Epimutation Biomarkers for Male Infertility and FSH Therapeutic Responsiveness

(2019) Saturnino Luján et al.   Scientific Reports

Association of Sperm Methylation at LINE-1, Four Candidate Genes, and Nicotine/Alcohol Exposure With the Risk of Infertility

(2019) Wenjing Zhang et al.   Frontiers in Genetics

An update on clinical and surgical interventions to reduce sperm DNA fragmentation in infertile men

(2019) Sandro C. Esteves et al.   Andrology

Impact of age, clinical conditions, and lifestyle on routine semen parameters and sperm kinematics

(2018) Gustavo Luis Verón et al.   FERTILITY AND STERILITY

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Smoking-induced genetic and epigenetic alterations in infertile men

(2018) Sezgin Gunes et al.   ANDROLOGIA

A similar effect of P16 hydroxymethylation and true-methylation on the prediction of malignant transformation of oral epithelial dysplasia: observation from a prospective study

(2018) Hongwei Liu et al.   BMC CANCER

Diet and men's fertility: does diet affect sperm quality?

(2018) Feiby L. Nassan et al.   FERTILITY AND STERILITY

Sperm epigenome as a marker of environmental exposure and lifestyle, at the origin of diseases inheritance

(2018) Benazir Siddeek et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters

(2018) Tao Luo et al.   HUMAN REPRODUCTION

Reactive oxygen species-induced alterations in H19-Igf2 methylation patterns, seminal plasma metabolites, and semen quality

(2018) Mahsa Darbandi et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Histone modification signatures in human sperm distinguish clinical abnormalities

(2018) Samantha B. Schon et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Lifestyle and fertility: the influence of stress and quality of life on male fertility

(2018) Alessandro Ilacqua et al.   Reproductive Biology and Endocrinology

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

(2017) Albrecht Röpke et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Cigarette smoking significantly alters sperm DNA methylation patterns

(2017) T. G. Jenkins et al.   Andrology

Impairment of sperm DNA methylation in male infertility: a meta-analytic study

(2017) D. Santi et al.   Andrology

Hypogonadism and Infertility in Testicular Cancer Survivors

(2017) Linda A. Jacobs et al.   Journal of the National Comprehensive Cancer Network

The Divergence of Neandertal and Modern Human Y Chromosomes

(2016) Fernando L. Mendez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A decade of human genome project conclusion: Scientific diffusion about our genome knowledge

(2016) Fernanda Moraes et al.   BIOCHEMISTRY AND MOLECULAR BIOLOGY EDUCATION

Cigarette Smoking and Semen Quality: A New Meta-analysis Examining the Effect of the 2010 World Health Organization Laboratory Methods for the Examination of Human Semen

(2016) Reecha Sharma et al.   EUROPEAN UROLOGY

Subfertility increases risk of testicular cancer: evidence from population-based semen samples

(2016) Heidi A. Hanson et al.   FERTILITY AND STERILITY

The role of epigenetics in idiopathic male infertility

(2016) Sezgin Gunes et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy

(2016) Taylor P. Kohn et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Novel concepts in male factor infertility: clinical and laboratory perspectives

(2016) Sandro C. Esteves   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Paternal smoking and germ cell death: A mechanistic link to the effects of cigarette smoke on spermatogenesis and possible long-term sequelae in offspring

(2016) Prabagaran Esakky et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Epigenetics in male reproduction: effect of paternal diet on sperm quality and offspring health

(2016) Undraga Schagdarsurengin et al.   Nature Reviews Urology

Abnormal Methylation of Imprinted Genes and Cigarette Smoking

(2016) Hao Dong et al.   Reproductive Sciences

Causes of hypogonadotropic hypogonadism predict response to gonadotropin substitution in adults

(2016) J. Rohayem et al.   Andrology

Genetics of Male Infertility

(2016) Filipe Tenorio Lira Neto et al.   Current Urology Reports

Complex and multi-allelic copy number variation in human disease

(2015) Christina L. Usher et al.   Briefings in Functional Genomics

Copy Number Variants, Aneuploidies, and Human Disease

(2015) Christa Lese Martin et al.   CLINICS IN PERINATOLOGY

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse

(2015) F. Yang et al.   EMBO Molecular Medicine

Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia

(2015) Carolina J. Jorgez et al.   FERTILITY AND STERILITY

Lack of replication of four candidate SNPs implicated in human male fertility traits: a large-scale population-based study

(2015) Youichi Sato et al.   HUMAN REPRODUCTION

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

A unique view on male infertility around the globe

(2015) Ashok Agarwal et al.   Reproductive Biology and Endocrinology

The impact of food intake and social habits on embryo quality and the likelihood of blastocyst formation

(2015) Daniela Paes Almeida Ferreira Braga et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Dynamic evolution and biogenesis of small RNAs during sex reversal

(2015) Jie Liu et al.   Scientific Reports

Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter's syndrome

(2015) J. Rohayem et al.   Andrology

Methylation analysis of histone H4K12ac-associated promoters in sperm of healthy donors and subfertile patients

(2015) Markus Vieweg et al.   Clinical Epigenetics

Sex chromosome-to-autosome transposition events counter Y-chromosome gene loss in mammals

(2015) Jennifer F Hughes et al.   GENOME BIOLOGY

Clinical implications of copy number variations in autoimmune disorders

(2015) Seon-Hee Yim et al.   KOREAN JOURNAL OF INTERNAL MEDICINE

Copy number variations and human genetic disease

(2014) Fady M. Mikhail   CURRENT OPINION IN PEDIATRICS

Histone H3.3 regulates dynamic chromatin states during spermatogenesis

(2014) B. T. K. Yuen et al.   DEVELOPMENT

The Y chromosome-linked copy number variations and male fertility

(2014) C. Krausz et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Polymorphism in DNMT1 may modify the susceptibility to oligospermia

(2014) Pan Cheng et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Microdissection Testicular Sperm Extraction (micro-TESE) as a Sperm Acquisition Method for Men with Nonobstructive Azoospermia Seeking Fertility: Operative and Laboratory Aspects

(2014) Sandro C. Esteves   International Braz J Urol

Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men

(2014) Zhibin Hu et al.   Nature Communications

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

(2014) Qiu-Yue Wu et al.   BMC Urology

Clinical genetic testing for male factor infertility: current applications and future directions

(2014) J. Hotaling et al.   Andrology

Fundamentals of Pyrosequencing

(2013) Colleen T. Harrington et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Mapping Human Epigenomes

(2013) Chloe M. Rivera et al.   CELL

The azoospermic male: current knowledge and future perspectives

(2013) SC Esteves et al.   Clinics

A comprehensive review of genetics and genetic testing in azoospermia

(2013) AJ Hamada et al.   Clinics

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

(2013) L Aksglaede et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

(2013) Deborah Lo Giacco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

(2013) Albrecht Röpke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epigenetic disorders and male subfertility

(2013) Céline Chalas Boissonnas et al.   FERTILITY AND STERILITY

The presence, role and clinical use of spermatozoal RNAs

(2013) Meritxell Jodar et al.   HUMAN REPRODUCTION UPDATE

Heterogeneous distribution of histone methylation in mature human sperm

(2013) Florenza A. La Spina et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

DNA methylation in spermatozoa as a prospective marker in andrology

(2013) R. Kläver et al.   Andrology

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013

(2013) C. Krausz et al.   Andrology

Epigenetic Control of Gonadotropin Releasing Hormone Neurons

(2013) Joseph R. Kurian et al.   Frontiers in Endocrinology

High dietary intake of saturated fat is associated with reduced semen quality among 701 young Danish men from the general population

(2012) Tina K Jensen et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia

(2012) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomics and Genetics of Human and Primate Y Chromosomes

(2012) Jennifer F. Hughes et al.   Annual Review of Genomics and Human Genetics

Genetic evaluation of the azoospermic or severely oligozoospermic male

(2012) Peter J. Stahl et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

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

European Association of Urology Guidelines on Male Infertility: The 2012 Update

(2012) Andreas Jungwirth et al.   EUROPEAN UROLOGY

Epigenetics of the male gamete

(2012) Douglas T. Carrell   FERTILITY AND STERILITY

A Real-Time Polymerase Chain Reaction-Based Protocol for Low/Medium-Throughput Y-Chromosome Microdeletions Analysis

(2012) Ludovica Segat et al.   Genetic Testing and Molecular Biomarkers

Intake of food groups and idiopathic asthenozoospermia: a case-control study

(2012) G. Eslamian et al.   HUMAN REPRODUCTION

Dietary fat and semen quality among men attending a fertility clinic

(2012) J. A. Attaman et al.   HUMAN REPRODUCTION

Klinefelter Syndrome—A Clinical Update

(2012) Kristian A. Groth et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ENCODE: The human encyclopaedia

(2012) Brendan Maher   NATURE

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

(2012) Sezgin Gunes et al.   Systems Biology in Reproductive Medicine

Unexplained Male infertility: diagnosis and Management

(2012) Alaa Hamada et al.   International Braz J Urol

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

(2011) Radu Harbuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chromosomal disorders and male infertility

(2011) Gary L Harton et al.   ASIAN JOURNAL OF ANDROLOGY

Male infertility: Pathogenesis and clinical diagnosis

(2011) Csilla Krausz   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Genomic imprinting in mammals—Epigenetic parental memories

(2011) Masahiro Kaneda   DIFFERENTIATION

Assisted reproductive technologies do not increase risk of abnormal methylation of PEG1/MEST in human early pregnancy loss

(2011) Hai-Yan Zheng et al.   FERTILITY AND STERILITY

Abnormal methylation of the promoter of CREM is broadly associated with male factor infertility and poor sperm quality but is improved in sperm selected by density gradient centrifugation

(2011) Laszlo Nanassy et al.   FERTILITY AND STERILITY

CpG islands and the regulation of transcription

(2011) A. M. Deaton et al.   GENES & DEVELOPMENT

The United States of Histone Ubiquitylation and Methylation

(2011) Michael Werner et al.   MOLECULAR CELL

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

(2011) Frank Tüttelmann et al.   PLoS One

A One-Step Real-Time Multiplex PCR for Screening Y-Chromosomal Microdeletions without Downstream Amplicon Size Analysis

(2011) Viviana Kozina et al.   PLoS One

Quantitative Analysis and Diagnostic Significance of Methylated SLC19A3 DNA in the Plasma of Breast and Gastric Cancer Patients

(2011) Enders K. O. Ng et al.   PLoS One

Male germ cells express abundant endogenous siRNAs

(2011) Rui Song et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Relationships between human sperm protamines, DNA damage and assisted reproduction outcomes

(2011) Luke Simon et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Novel concepts in male infertility

(2011) Sandro C. Esteves et al.   International Braz J Urol

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Trans–fatty acid levels in sperm are associated with sperm concentration among men from an infertility clinic

(2010) Jorge E. Chavarro et al.   FERTILITY AND STERILITY

Association between socio-psycho-behavioral factors and male semen quality: systematic review and meta-analyses

(2010) Ying Li et al.   FERTILITY AND STERILITY

Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

(2010) K. I. Aston et al.   HUMAN REPRODUCTION

Genomic imprinting in germ cells: imprints are under control

(2010) Philippe Arnaud   REPRODUCTION

Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia

(2009) K. I. Aston et al.   JOURNAL OF ANDROLOGY

Atypical XX male with theSRY gene located at the long arm of chromosome 1 and a 1qter microdeletion

(2008) Rosa Queralt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Histones: Annotating Chromatin

(2008) Eric I. Campos et al.   Annual Review of Genetics

Protamine 2 precursors (Pre-P2), protamine 1 to protamine 2 ratio (P1/P2), and assisted reproduction outcome

(2008) Sara de Mateo et al.   FERTILITY AND STERILITY

Food intake and its relationship with semen quality: a case-control study

(2008) Jaime Mendiola et al.   FERTILITY AND STERILITY

Dynamic nature of the proximalAZFcregion of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis

(2008) Patricia Balaresque et al.   HUMAN MUTATION

On the nature of human housekeeping genes

(2008) Jiang Zhu et al.   TRENDS IN GENETICS

ZIP4H (TEX11) Deficiency in the Mouse Impairs Meiotic Double Strand Break Repair and the Regulation of Crossing Over

(2008) Carrie A. Adelman et al.   PLoS Genetics