Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

(2021) Rosaria Nardello et al.   BMC Medical Genomics

Poor intracytoplasmic sperm injection outcome in infertile males with azoospermia factor c microdeletions

(2021) Li Zhang et al.   FERTILITY AND STERILITY

Molecular characterization of the Yp11.2 region deletion in the Chinese Han population

(2021) Qianqian Pang et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Sequence, Chromatin and Evolution of Satellite DNA

(2021) Jitendra Thakur et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genomic Tackling of Human Satellite DNA: Breaking Barriers through Time

(2021) Mariana Lopes et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genetics of Azoospermia

(2021) Francesca Cioppi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

GM130 regulates pulmonary surfactant protein secretion in alveolar type II cells

(2021) Qianqian Pang et al.   Science China-Life Sciences

Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature

(2021) P. H. Vogt et al.   Cell and Bioscience

A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

(2021) Pille Hallast et al.   eLife

Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication

(2021) Francesco Ravasini et al.   Frontiers in Genetics

Y chromosome copy number variation and its effects on fertility and other health factors: a review

(2021) Marc J. Rogers   Translational Andrology and Urology

Y chromosomal noncoding RNAs regulate autosomal gene expression via piRNAs in mouse testis

(2021) Hemakumar M. Reddy et al.   BMC BIOLOGY

The advancement of telomere quantification methods

(2021) Albert Dweck et al.   MOLECULAR BIOLOGY REPORTS

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

(2021) María Luisa Guevara‐Fujita et al.   Molecular Genetics & Genomic Medicine

Y chromosome functions in mammalian spermatogenesis

(2021) Jeremie Subrini et al.   eLife

Mosaic loss of human Y chromosome: what, how and why

(2020) Xihan Guo et al.   HUMAN GENETICS

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

(2020) Si He et al.   Molecular Cytogenetics

Deletions and duplications of 42 Y chromosomal short tandem repeats in Chinese Han population

(2020) Hailun Nan et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Cytogenetic and molecular detection of a rare unbalanced Y;3 translocation in an infertile male

(2020) Shu Deng et al.   MEDICINE

Unravelling the disease mechanism for TSPYL1 deficiency

(2020) Gunnar Buyse et al.   HUMAN MOLECULAR GENETICS

Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring

(2020) Xiangyin Liu et al.   MEDICINE

Editorial for the special issue on the molecular genetics of male infertility

(2020) Csilla Krausz   HUMAN GENETICS

CRISPRidentify: identification of CRISPR arrays using machine learning approach

(2020) Alexander Mitrofanov et al.   NUCLEIC ACIDS RESEARCH

Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission

(2020) Yuting Jiang et al.   Biomed Research International

Dark Matter of Primate Genomes: Satellite DNA Repeats and Their Evolutionary Dynamics

(2020) Syed Farhan Ahmad et al.   Cells

The Y-linked proto-oncogene TSPY contributes to poor prognosis of the male hepatocellular carcinoma patients by promoting the pro-oncogenic and suppressing the anti-oncogenic gene expression

(2019) Tatsuo Kido et al.   Cell and Bioscience

Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY

(2019) P H Vogt et al.   HUMAN REPRODUCTION

gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

(2019) Daniel Moreno-Mendoza et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of the Yp11.2 Deletion Region of Phenotypically Normal Males with an AMELY-Null Allele in the Chinese Han Population

(2019) Juan Bo Cheng et al.   Genetic Testing and Molecular Biomarkers

Comparison of Y-chromosome-linked TSPY, TSPY2, and PRAMEY genes in Taurus cattle, yaks, and interspecific hybrid bulls

(2019) Gong-Wei Zhang et al.   JOURNAL OF DAIRY SCIENCE

Identifying Novel Copy Number Variants in Azoospermia Factor Regions and Evaluating Their Effects on Spermatogenic Impairment

(2019) Ran Zhou et al.   Frontiers in Genetics

Duplications in 19p13.3 are associated with male infertility

(2019) Vertika Singh et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology

(2019) Leendert H. J. Looijenga et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China

(2019) Jing Sha et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

(2019) Fabrizio Signore et al.   Genes

Thymosin β4 Deficiency Exacerbates Renal and Cardiac Injury in Angiotensin-II–Induced HypertensionNovelty and Significance

(2018) Nitin Kumar et al.   HYPERTENSION

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population

(2018) Xiling Yang et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

Genetics of the human Y chromosome and its association with male infertility

(2018) Stacy Colaco et al.   Reproductive Biology and Endocrinology

Viewing the male-specific chromosome Y in a new light

(2017) Christian F Deschepper   EUROPEAN JOURNAL OF HUMAN GENETICS

Reproductive outcomes of testicular versus ejaculated sperm for intracytoplasmic sperm injection among men with high levels of DNA fragmentation in semen: systematic review and meta-analysis

(2017) Sandro C. Esteves et al.   FERTILITY AND STERILITY

Spermatogenic failure and the Y chromosome

(2017) C. Krausz et al.   HUMAN GENETICS

The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants

(2017) Yunmin Li et al.   HUMAN MOLECULAR GENETICS

CRISPR-mediated isolation of specific megabase segments of genomic DNA

(2017) Pamela E. Bennett-Baker et al.   NUCLEIC ACIDS RESEARCH

AZFa Microdeletions: Occurrence in Chinese Infertile Men and Novel Deletions Revealed by Semiconductor Sequencing

(2017) Xiang-Yin Liu et al.   UROLOGY

Globozoospermia and lack of acrosome formation in GM130-deficient mice

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

Copy number variations in testicular maturation arrest

(2017) A. Halder et al.   Andrology

Are AZFb deletions always incompatible with sperm production?

(2017) K. Stouffs et al.   Andrology

Concepts in diagnosis and therapy for male reproductive impairment

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

Patterns of Inter-Chromosomal Gene Conversion on the Male-Specific Region of the Human Y Chromosome

(2017) Beniamino Trombetta et al.   Frontiers in Genetics

Analysis of partial azoospermia factor c deletion andDAZcopy number in azoospermia and severe oligozoospermia

(2016) L. Alimardanian et al.   ANDROLOGIA

Loss of the golgin GM130 causes Golgi disruption, Purkinje neuron loss, and ataxia in mice

(2016) Chunyi Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of GOLGA2P3Y but not GOLGA2P2Y is a risk factor for oligozoospermia

(2016) Sanjukta Sen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Identification of an NKX3.1-G9a-UTY transcriptional regulatory network that controls prostate differentiation

(2016) A. Dutta et al.   SCIENCE

Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses and trial sequential analyses

(2016) Sandeep Kumar Bansal et al.   Scientific Reports

Copy number variation in the human Y chromosome in the UK population

(2015) Wei Wei et al.   HUMAN GENETICS

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

(2015) S. Sen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification

(2015) Kazuki Saito et al.   JOURNAL OF HUMAN GENETICS

Human UTY(KDM6C) Is a Male-specificNϵ-Methyl Lysyl Demethylase

(2014) Louise J. Walport et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Y chromosome-linked copy number variations and male fertility

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

Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment

(2014) Chuncheng Lu et al.   MOLECULAR HUMAN REPRODUCTION

High-Throughput Screening for Spermatogenesis Candidate Genes in the AZFc Region of the Y Chromosome by Multiplex Real Time PCR Followed by High Resolution Melting Analysis

(2014) Evguenia Alechine et al.   PLoS One

Translational Genetics for Diagnosis of Human Disorders of Sex Development

(2013) Ruth M. Baxter et al.   Annual Review of Genomics and Human Genetics

Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development

(2013) Shinichi Nakashima et al.   ENDOCRINE JOURNAL

A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion

(2013) Ying Shen et al.   HUMAN MOLECULAR GENETICS

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

(2013) S. Sen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Two Y Genes Can Replace the Entire Y Chromosome for Assisted Reproduction in the Mouse

(2013) Yasuhiro Yamauchi et al.   SCIENCE

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

(2013) C. Krausz et al.   Andrology

AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes

(2012) Steven G. Rozen 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

Sex, rebellion and decadence: The scandalous evolutionary history of the human Y chromosome

(2012) Paulo Navarro-Costa   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?

(2012) Sandra E. Kleiman et al.   FERTILITY AND STERILITY

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

(2012) Li Fu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

(2012) Mehdi Totonchi et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A Fresh Look at the Male-specific Region of the Human Y Chromosome

(2012) Zohreh Jangravi et al.   JOURNAL OF PROTEOME RESEARCH

Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin

(2012) Han-Sun Chiang et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

DYZ1 copy number variation, Y chromosome polymorphism and early recurrent spontaneous abortion/early embryo growth arrest

(2011) Junhao Yan et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count

(2011) Michiel J. Noordam et al.   HUMAN MOLECULAR GENETICS

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

(2011) Elsa Kichine et al.   HUMAN REPRODUCTION

Distinct Properties of the XY Pseudoautosomal Region Crucial for Male Meiosis

(2011) L. Kauppi et al.   SCIENCE

The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis

(2010) Alexandra M Lopes et al.   BMC MOLECULAR BIOLOGY

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

(2010) Emilia Mateu et al.   FERTILITY AND STERILITY

What about gr/gr deletions and male infertility? Systematic review and meta-analysis

(2010) Katrien Stouffs et al.   HUMAN REPRODUCTION UPDATE

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

(2010) P. Navarro-Costa et al.   HUMAN REPRODUCTION UPDATE

Identification of SOX3 as an XX male sex reversal gene in mice and humans

(2010) Edwina Sutton et al.   JOURNAL OF CLINICAL INVESTIGATION

Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content

(2010) Jennifer F. Hughes et al.   NATURE

TSPY and Male Fertility

(2010) Csilla Krausz et al.   Genes

Y chromosome TSPY copy numbers and semen quality

(2009) Bita Nickkholgh et al.   FERTILITY AND STERILITY

TSPY1Copy Number Variation Influences Spermatogenesis and Shows Differences among Y Lineages

(2009) Claudia Giachini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation

(2009) Kehkooi Kee et al.   NATURE

The Will-o'-the-Wisp of Genetics — Hunting for the Azoospermia Factor Gene

(2009) Chris Tyler-Smith et al.   NEW ENGLAND JOURNAL OF MEDICINE

Y-chromosome AZFc structural architecture and relationship to male fertility

(2008) Celia Ravel et al.   FERTILITY AND STERILITY