SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
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Thomas Karaouzene | Nicolas Thierry-Mieg | Serge Nef | M. Mitchell | N. Thierry-Mieg | C. Borel | P. Ray | S. Nef | J. Fauré | C. Metzler-Guillemain | Zine-Eddine Kherraf | C. Coutton | C. Arnoult | G. Martinez | V. Satre | J. Escoffier | K. Pernet-Gallay | S. Hennebicq | Christophe Arnoult | B. Dorphin | M. Bailly | Christelle Borel | Marc Bailly | Florence Boitrelle | Sylviane Hennebicq | Pierre F Ray | Jessica Escoffier | Michael J Mitchell | Karin Pernet-Gallay | Zine-Eddine Kherraf | Marie Christou-Kent | Amir Amiri-Yekta | Guillaume Martinez | Alexandra S Vargas | Emeline Lambert | Béatrice Dorphin | Isabelle Aknin-Seifer | Catherine Metzler-Guillemain | Mariane Grepillat | Véronique Satre | Julien Fauré | Serge P Bottari | Charles Coutton | S. Bottari | I. Aknin-Seifer | F. Boitrelle | E. Lambert | A. Amiri-Yekta | Thomas Karaouzene | Marie Christou-Kent | Alexandra S. Vargas | Mariane Grepillat | Z. Kherraf | Amir Amiri-Yekta | Emeline Lambert | F. Boitrelle | Nicolas Thierry-Mieg
[1] M. Ohmuraya,et al. Role of Intrapancreatic SPINK1/Spink3 Expression in the Development of Pancreatitis , 2012, Front. Physio..
[2] E. Nieschlag,et al. Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy. , 2011, International journal of andrology.
[3] P. Jouk,et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. , 2011, American journal of human genetics.
[4] Zhihong Wu,et al. The serine protease inhibitor of Kazal-type 9 (SPINK9) is expressed in lichen simplex chronicus, actinic keratosis and squamous cell carcinoma , 2016, Archives of Dermatological Research.
[5] L. Tres,et al. Acroplaxome, an F-actin-keratin-containing plate, anchors the acrosome to the nucleus during shaping of the spermatid head. , 2003, Molecular biology of the cell.
[6] J. Gallo,et al. Characterization of a monoclonal antibody to human proacrosin and its use in acrosomal status evaluation. , 1991, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.
[7] A. Hovnanian,et al. Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy , 2014, Biological chemistry.
[8] Jihye Kim,et al. Impaired Spermatogenesis and Fertility in Mice Carrying a Mutation in the Spink2 Gene Expressed Predominantly in Testes* , 2011, The Journal of Biological Chemistry.
[9] Neil D Rawlings,et al. Evolutionary families of peptidase inhibitors. , 2004, The Biochemical journal.
[10] W. Buzgariu,et al. Autophagy in Hydra: a response to starvation and stress in early animal evolution. , 2009, Biochimica et biophysica acta.
[11] M. Vazquez-Levin,et al. Immunolocalization of bovine sperm protease BSp120 by light and electron microscopy during capacitation and the acrosome reaction: Its role in in vitro fertilization , 2004, Molecular reproduction and development.
[12] Walter G. Park,et al. Pharmacologic therapy for acute pancreatitis. , 2014, World journal of gastroenterology.
[13] H. Baker,et al. Inhibition of acrosin activity with a trypsin inhibitor blocks human sperm penetration of the zona pellucida. , 1993, Biology of reproduction.
[14] C. Brown,et al. The activation of proacrosin in spermatozoa from ram bull and boar. , 1978, Biochimica et biophysica acta.
[15] D. A. O’Brien,et al. Boar proacrosin expressed in spermatids of transgenic mice does not reach the acrosome and disrupts spermatogenesis , 1996, Molecular reproduction and development.
[16] A. Tolun,et al. Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia , 2014, Journal of Medical Genetics.
[17] G. Gerton,et al. Studies of three major proteases associated with guinea pig sperm acrosomes. , 1987, The Journal of experimental zoology.
[18] D. Deamer,et al. The pH of the hamster sperm acrosome. , 1978, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.
[19] Olfert Landt,et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis , 2000, Nature Genetics.
[20] C. Férec,et al. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis , 2000, Journal of medical genetics.
[21] G. Gerton,et al. Mouse Sperm Protein sp56 Is a Component of the Acrosomal Matrix1 , 2001, Biology of reproduction.
[22] H. Tournaye,et al. Genetic causes of spermatogenic failure. , 2012, Asian journal of andrology.
[23] S. Yamada,et al. Two novel testicular serine proteases, TESP1 and TESP2, are present in the mouse sperm acrosome. , 1998, Biochemical and biophysical research communications.
[24] A. Frumkin,et al. Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia , 2015, Journal of Assisted Reproduction and Genetics.
[25] Sean C. Taylor,et al. The Design of a Quantitative Western Blot Experiment , 2014, BioMed research international.
[26] Klaus Dieterich,et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility , 2007, Nature Genetics.
[27] W. Schulze,et al. A new paradigm for profiling testicular gene expression during normal and disturbed human spermatogenesis. , 2007, Molecular human reproduction.
[28] D. Zarkower,et al. The mammalian Doublesex homolog DMRT6 coordinates the transition between mitotic and meiotic developmental programs during spermatogenesis , 2014, Development.
[29] A. Rajkovic,et al. X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. , 2015, The New England journal of medicine.
[30] Jian Li,et al. Microautophagy: lesser-known self-eating , 2011, Cellular and Molecular Life Sciences.
[31] N. Thierry-Mieg,et al. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. , 2014, American journal of human genetics.
[32] M. Ohmuraya,et al. Autophagic cell death of pancreatic acinar cells in serine protease inhibitor Kazal type 3-deficient mice. , 2005, Gastroenterology.
[33] T. Baba,et al. Activation of boar proacrosin is effected by processing at both N‐and C‐terminal portions of the zymogen molecule , 1989, FEBS letters.
[34] David P. Kreil,et al. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control consortium , 2014, Nature Biotechnology.
[35] S. Rozen,et al. TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse , 2015, EMBO molecular medicine.
[36] P. Ray,et al. Dynamics of Sun5 Localization during Spermatogenesis in Wild Type and Dpy19l2 Knock-Out Mice Indicates That Sun5 Is Not Involved in Acrosome Attachment to the Nuclear Envelope , 2015, PloS one.
[37] S. Meizel,et al. Purification of rabbit testis proacrosin and studies of its active form. , 1975, Biology of reproduction.
[38] M. Ohmuraya,et al. Autophagic Cell Death of Pancreatic Acinar Cells in Serine Protease Inhibitor Kazal Type 3—Deficient Mice , 2005 .
[39] David L. Young,et al. Zmynd15 Encodes a Histone Deacetylase-dependent Transcriptional Repressor Essential for Spermiogenesis and Male Fertility* , 2010, The Journal of Biological Chemistry.
[40] P. Ray,et al. Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus , 2012, Development.
[41] S. Viville,et al. Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. , 2015, Human molecular genetics.
[42] S. Kellokumpu,et al. Golgi pH, its regulation and roles in human disease , 2012, Annals of medicine.
[43] L. Furlong,et al. Evaluation of the proacrosin/acrosin system and its mechanism of activation in human sperm extracts. , 2002, Journal of reproductive immunology.
[44] T. Nikolskaya,et al. A comprehensive functional analysis of tissue specificity of human gene expression , 2008, BMC Biology.