Varaico: Literature-Extracted Genetic Variants

Gene:AURKC
Variant:p.P48delFs
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AURKC

NM_001015878.2:p.P48delFs

Associated Papers

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Oud MS et al.

Andrology, 2025

Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.

Redouane S et al.

Molecular Biology Reports, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.

Zhao Q et al.

Frontiers in Endocrinology, 2025

40951413 (PubMed )
Supplement: Table2.xlsx › All_articles_and_genes

IQ motif family genes in male infertility: pathogenesis, mechanisms, and clinical perspectives.

Zhang P et al.

Frontiers in Reproductive Health, 2025

Successful intracytoplasmic sperm injection in a macrozoospermia case with novel compound heterozygous aurora kinase C (AURKC) mutations.

Jiang L et al.

Archives of Gynecology and Obstetrics, 2024

Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia.

Redouane S et al.

Journal of Biomolecular Structure & Dynamics, 2023

A Case of Severe Teratozoospermia and Infertility Due to Homozygous Mutation c.144delC in the AURKC Gene.

Abbassi M et al.

Cureus, 2023

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Avnat E et al.

Genes, 2023

The genetic causes of male infertility: a Middle East and North Africa perspective.

Duvuru R et al.

F1000research, 2022

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Okutman O et al.

Genes, 2021

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.

Capalbo A et al.

Human Reproduction Update, 2021

Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.

Hamza L et al.

Andrologia, 2020

Compound heterozygosity for novel AURKC mutations in an infertile man with macrozoospermia.

Bai S et al.

Andrologia, 2020

Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia.

Kobesiy MM et al.

Andrologia, 2020

The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility-A Unifying Hypothesis?

Aitken RJ et al.

Frontiers in Endocrinology, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Contemporary genetics-based diagnostics of male infertility.

Ferlin A et al.

Expert Review of Molecular Diagnostics, 2019

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia.

Hua J et al.

Journal of Assisted Reproduction and Genetics, 2019

[Genetic aspects of male infertility: From bench to clinic].

Ben Rhouma M et al.

Gynecologie, Obstetrique, Fertilite & Senologie, 2019

Monogenic Forms of Male Infertility.

Krausz C et al.

Experientia Supplementum (2012), 2019

Genetic evaluation of patients with non-syndromic male infertility.

Okutman O et al.

Journal of Assisted Reproduction and Genetics, 2018

Autosomal single-gene disorders involved in human infertility.

Jedidi I et al.

Saudi Journal of Biological Sciences, 2018

Genetics of male infertility.

Krausz C et al.

Nature Reviews. Urology, 2018

Testing for genetic contributions to infertility: potential clinical impact.

Krausz C et al.

Expert Review of Molecular Diagnostics, 2018

[Idiopathic teratozoospermia is not correlated with c.144delC polymorphism in the AURKC gene in Sichuan].

Mu XM et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2017

Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy.

Nguyen AL et al.

Molecular Human Reproduction, 2017

Human male infertility and its genetic causes.

Miyamoto T et al.

Reproductive Medicine and Biology, 2017

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

Carmignac V et al.

Andrology, 2017

Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system.

Fellmeth JE et al.

Human Molecular Genetics, 2016

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.

Charoute H et al.

Human Mutation, 2015

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Ghédir H et al.

Journal of Assisted Reproduction and Genetics, 2015

Possible Role of Aurora-C in Meiosis.

Yang KT et al.

Frontiers in Oncology, 2015

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.

Eloualid A et al.

Fertility and Sterility, 2014

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

Ben Khelifa M et al.

Human Reproduction (oxford, England), 2012

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

22908982 (PubMed )
Supplement: 1750-1172-7-52-S2.xlsx › Feuil1

[Genetics of male infertility: the new players].

Coutton C et al.

Medecine Sciences : M/s, 2012

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

Ben Khelifa M et al.

Molecular Human Reproduction, 2011

[Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa].

El Kerch F et al.

Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction, 2011

Clinical Review#: State of the art for genetic testing of infertile men.

McLachlan RI et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

[Function of aurora kinase C (AURKC) in human reproduction].

Harbuz R et al.

Gynecologie, Obstetrique & Fertilite, 2009

[Genetic aspects of the teratozoospermia].

Guichaoua MR et al.

Gynecologie, Obstetrique & Fertilite, 2009

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Dieterich K et al.

Human Molecular Genetics, 2009

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Dieterich K et al.

Nature Genetics, 2007

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Ounis L et al.

Asian Journal of Andrology, 0

Teratozoospermia: spotlight on the main genetic actors in the human.

Coutton C et al.

Human Reproduction Update, 0

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