ArticleEMBO molecular medicine2017
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
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In one paragraph
Article in EMBO molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 1 pooled it
15.4field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 133 citations in OpenAlex.
- Current Update on Categorization of Migraine Subtypes on the Basis of Genetic Variation: a Systematic Review.Molecular neurobiology · 2024Pooled it
- SPINK2 in hematopoiesis and cancer: Biology and clinical implications.Cell death discovery · 2026Review
- Therapeutic Targets for Lung Squamous Cell Carcinoma: Proteome-Wide Mendelian Randomization and Potential Drug Prediction.The clinical respiratory journal · 2026Article
- Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- High-Resolution Multiplexed Sequencing of Single-Cell Full-length Transcriptome Via Combinational Barcoded Tn5 Transposon Insertion.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Expression of marker genes to assess the spermatogenic capacity in patients with idiopathic non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2025Article
- The SPINK Protein Family in Cancer: Emerging Roles in Tumor Progression, Therapeutic Resistance, and Precision Oncology.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Extraction, purification, biological effects and applications of acrosin: a review.Frontiers in cellular and infection microbiology · 2025Review
- ECRG2/SPINK7 Tumor Suppressor as Modulator of DNA Damage Response.International journal of molecular sciences · 2024Review
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Effects ofHuman reproduction open · 2024Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Article
- SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.International journal of molecular sciences · 2023Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- ARRDC5 expression is conserved in mammalian testes and required for normal sperm morphogenesis.Nature communications · 2023Article
- Upregulation of SPINK2 in acute myeloid leukemia.Advances in laboratory medicine · 2023Review
- Transcriptome profiling of the initial segment and proximal caput of mouse epididymis.Frontiers in endocrinology · 2023Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 5 institutions in 3 countries.
Zine-Eddine KherrafGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Marie Christou-KentGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Thomas KaraouzeneGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Amir Amiri-YektaGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Guillaume MartinezGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Alexandra S VargasGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Emeline LambertGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Christelle BorelDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva 4, Switzerland.
Béatrice DorphinLaboratoire d'Aide Médicale à la Procréation, Centre AMP 74, Contamine-sur-Arve, France.
Isabelle Aknin-SeiferLaboratoire de Biologie de la Reproduction, Hôpital Nord, Saint Etienne, France.
Michael J MitchellAix Marseille Univ INSERM GMGF, Marseille, France.
Catherine Metzler-GuillemainAix Marseille Univ INSERM GMGF, Marseille, France.
Jessica EscoffierGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Serge NefDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva 4, Switzerland.
Mariane GrepillatGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Nicolas Thierry-MiegUniv. Grenoble Alpes / CNRS, TIMC-IMAG, Grenoble, France.
Véronique SatreGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Marc BaillyDepartment of Reproductive Biology and Gynaecology, Poissy General Hospital, Poissy, France.
Florence BoitrelleDepartment of Reproductive Biology and Gynaecology, Poissy General Hospital, Poissy, France.
Karin Pernet-GallayGrenoble Neuroscience Institute, INSERM 1216, Grenoble, France.
Sylviane HennebicqGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Julien FauréCHU de Grenoble, UF de Biochimie Génétique et Moléculaire, Grenoble, France.
Serge P BottariGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Charles CouttonGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Pierre F RayGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France pray@chu-grenoble.fr.ORCID 0000-0003-1544-7449
Christophe ArnoultGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, Inserm U1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
Centre National de la Recherche Scientifique · FRInserm · FRUniversité de Versailles Saint-Quentin-en-Yvelines · FRUniversity of Geneva · CHHôpital Nord · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in
Indexed as
AnimalsAsthenozoospermiaAzoospermiaDisease Models, AnimalGlycoproteinsHeterozygoteHomozygoteMaleMiceMice, KnockoutSerine Peptidase Inhibitors, Kazal TypeGlycoproteinsSerine Peptidase Inhibitors, Kazal TypeSPINK2 protein, humanSPINK2 protein, mouseazoospermiaexome sequencinggeneticsinfertilityspermatogenesis
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