4.5 Article

Pathogenic variants of ATG4D in infertile men with non-obstructive azoospermia identified using whole-exome sequencing

Related references

Note: Only part of the references are listed.
Review Genetics & Heredity

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

Laura Kasak et al.

Summary: About 20% of azoospermia cases have unknown causes, mainly attributed to congenital factors causing spermatogenic dysfunction and involve monogenic defects. Despite limited understanding, these loci are predicted to functionally interact and over half of the genes are also related to female reproductive issues. Exploring digenic or oligogenic and de novo mutations may improve infertility management.

HUMAN GENETICS (2021)

Review Genetics & Heredity

Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?

Samuele Soraggi et al.

Summary: Azoospermia is a condition characterized by the absence of spermatozoa in ejaculate. This article reviews the complex cellular structure of the human testis in different types of azoospermia and outlines how known genetic alterations affect testis pathology. The authors combined single-cell RNA sequencing datasets from the human testis to show expression patterns and network analysis of genes involved in the pathogenesis of azoospermia.

HUMAN GENETICS (2021)

Article Genetics & Heredity

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

Albert Salas-Huetos et al.

Summary: This study identified novel TERB2 variants associated with idiopathic NOA and highlighted the potential role of MTC genes in spermatogenic impairment. Variants in MTC genes may be an important cause of NOA in both consanguineous and outbred populations.

HUMAN GENETICS (2021)

Review Biochemistry & Molecular Biology

Genetics of Azoospermia

Francesca Cioppi et al.

Summary: Azoospermia can be caused by various genetic factors, with different diagnostic yields in different etiological categories. Whole-Exome Sequencing has led to the discovery of numerous potential candidate genes for Non-Obstructive Azoospermia, which could significantly impact future gene panel-based screenings and patient management. Additionally, approximately 37% of candidate genes are shared in male and female gonadal failure, suggesting the importance of extending genetic counseling to female family members of NOA patients.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Genetics & Heredity

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

Samantha L. P. Schilit et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Article Obstetrics & Gynecology

The management of obstructive azoospermia: a committee opinion

FERTILITY AND STERILITY (2019)

Article Genetics & Heredity

Point-of-care whole-exome sequencing of idiopathic male infertility

Khalid A. Fakhro et al.

GENETICS IN MEDICINE (2018)

Article Obstetrics & Gynecology

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

M. Ben Khelifa et al.

HUMAN REPRODUCTION (2018)

Review Urology & Nephrology

Genetics of male infertility

Csilla Krausz et al.

NATURE REVIEWS UROLOGY (2018)

Article Genetics & Heredity

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

Laura Kasak et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

Yongjia Yang et al.

JOURNAL OF MEDICAL GENETICS (2018)

Article Multidisciplinary Sciences

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

Muhammad Jaseem Khan et al.

SCIENTIFIC REPORTS (2018)

Article Obstetrics & Gynecology

Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia

Roberto Colombo et al.

GYNECOLOGIC AND OBSTETRIC INVESTIGATION (2017)

Article Genetics & Heredity

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

Ozlem Okutman et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2017)

Article Genetics & Heredity

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

Maram Arafat et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Pathology

Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation

Pernilla Syrjae et al.

VETERINARY PATHOLOGY (2017)

Editorial Material Oncology

Atg4 in autophagosome biogenesis

Jana Sanchez-Wandelmer et al.

ONCOTARGET (2017)

Review Reproductive Biology

Regulatory effects of autophagy on spermatogenesis

Jun Yin et al.

BIOLOGY OF REPRODUCTION (2017)

Article Obstetrics & Gynecology

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

Ranjith Ramasamy et al.

FERTILITY AND STERILITY (2015)

Article Genetics & Heredity

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

Esther Maor-Sagie et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2015)

Review Medicine, Research & Experimental

The functional and pathologic relevance of autophagy proteases

Alvaro F. Fernandez et al.

JOURNAL OF CLINICAL INVESTIGATION (2015)

Article Genetics & Heredity

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

Yardena Tenenbaum-Rakover et al.

JOURNAL OF MEDICAL GENETICS (2015)

Article Endocrinology & Metabolism

Y chromosome microdeletions and alterations of spermatogenesis, patient approach and genetic counseling

Nathalie Rives

ANNALES D ENDOCRINOLOGIE (2014)

Article Cell Biology

Atg7 is required for acrosome biogenesis during spermatogenesis in mice

Hongna Wang et al.

CELL RESEARCH (2014)

Article Biochemistry & Molecular Biology

STAG3 is a strong candidate gene for male infertility

Elena Llano et al.

HUMAN MOLECULAR GENETICS (2014)

Article Genetics & Heredity

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia

Ozgecan Ayhan et al.

JOURNAL OF MEDICAL GENETICS (2014)

Article Urology & Nephrology

Obstructive Azoospermia

Matthew S. Wosnitzer et al.

UROLOGIC CLINICS OF NORTH AMERICA (2014)

Review Medicine, General & Internal

Obstructive azoospermia: reconstructive techniques and results

Karen Baker et al.

CLINICS (2013)

Article Genetics & Heredity

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Larysa Y. Pylyp et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2013)

Article Biochemical Research Methods

Proteomic analysis of male 4C germ cell proteins involved in mouse meiosis

Xuejiang Guo et al.

PROTEOMICS (2011)

Article Urology & Nephrology

Role of Genetics in Azoospermia

Joo Yeon Lee et al.

UROLOGY (2011)

Article Genetics & Heredity

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

Anu Bashamboo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Mutations in SOHLH1 Gene Associate with Nonobstructive Azoospermia

Youngsok Choi et al.

HUMAN MUTATION (2010)

Article Biochemical Research Methods

Proteomic Analysis of Proteins Involved in Spermiogenesis in Mouse

Xuejiang Guo et al.

JOURNAL OF PROTEOME RESEARCH (2010)

Article Multidisciplinary Sciences

Network organization of the human autophagy system

Christian Behrends et al.

NATURE (2010)

Editorial Material Cell Biology

Atg4D at the interface between autophagy and apoptosis

Virginie M. S. Betin et al.

AUTOPHAGY (2009)

Review Multidisciplinary Sciences

Autophagy in health and disease: A double-edged sword

T Shintani et al.

SCIENCE (2004)

Article Medicine, General & Internal

Azoospermia in patients heterozygous for a mutation in SYCP3

T Miyamoto et al.

LANCET (2003)