Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

Autor: Cervan-Martin, M, Suazo-Sanchez, MI, Rivera-Egea, R, Garrido, N, Lujan, S, Romeu, G, Santos-Ribeiro, S, Castilla, JA, Gonzalvo, MC, Clavero, A, Vicente, FJ, Maldonado, V, Burgos, M, Barrionuevo, FJ, Jimenez, R, Sanchez-Curbelo, J, Lopez-Rodrigo, O, Peraza, MF, Pereira-Caetano, I, Marques, PI, Carvalho, F, Barros, A, Bassas, L, Seixas, S, Goncalves, J, Larriba, S, Lopes, AM, Palomino-Morales, RJ, Carmona, FD

Publikováno v: FERTILITY AND STERILITY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic asso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::bfb737e8bc12041b4eea0369bfdf3179
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1760

Comprehensive Evaluation of the Genetic Basis of Keratoconus: New Perspectives for Clinical Translation.

Autor: Cerván-Martín M; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Higueras-Serrano I; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain., González-Muñoz S; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Guzmán-Jiménez A; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Chaves-Urbano B; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.; Computational Oncology Group, Spanish National Cancer Research Centre, Madrid, Spain., Palomino-Morales RJ; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.; Departamento de Bioquímica y Biología Molecular I, Universidad de Granada, Granada, Spain., Poo-López A; Instituto Universitario Fernández-Vega, Universidad de Oviedo, Fundación de Investigación Oftalmológica, Oviedo, Spain., Fernández-Vega-Cueto L; Instituto Universitario Fernández-Vega, Universidad de Oviedo, Fundación de Investigación Oftalmológica, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain., Merayo-Lloves J; Instituto Universitario Fernández-Vega, Universidad de Oviedo, Fundación de Investigación Oftalmológica, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain., Alcalde I; Instituto Universitario Fernández-Vega, Universidad de Oviedo, Fundación de Investigación Oftalmológica, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain., Bossini-Castillo L; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Carmona FD; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Oct 01; Vol. 65 (12), pp. 32.

Sex-specific association of SELL gene polymorphisms with pattern hair loss in the Thai population: A candidate gene association study and in silico functional characterization.

Autor: Khantham C; Department of Pharmaceutical Sciences, Faculty of Pharmacy., Ruksiriwanich W; Department of Pharmaceutical Sciences, Faculty of Pharmacy; Cluster of Research and Development of Pharmaceutical and Natural Products Innovation for Human or Animal, Chiang Mai University, Chiang Mai, Thailand. Electronic address: warintorn.ruksiri@cmu.ac.th., Chaitep T; Department of Pharmaceutical Sciences, Faculty of Pharmacy., Linsaenkart P; Department of Pharmaceutical Sciences, Faculty of Pharmacy., Muangsanguan A; Department of Pharmaceutical Sciences, Faculty of Pharmacy., Guzmán-Jiménez A; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain., Cerván-Martín M; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Bossini-Castillo L; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Gonzalez-Muñoz S; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain., Palomino-Morales RJ; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain; Departamento de Bioquímica y Biología Molecular I, Universidad de Granada, Granada, Spain., Leetrakool N; Blood Bank Section, Maharaj Nakorn Chiang Mai Hospital, Faculty of Medicine., Shaengkhamnang B; Blood Bank Section, Maharaj Nakorn Chiang Mai Hospital, Faculty of Medicine., Chittasupho C; Department of Pharmaceutical Sciences, Faculty of Pharmacy; Cluster of Research and Development of Pharmaceutical and Natural Products Innovation for Human or Animal, Chiang Mai University, Chiang Mai, Thailand., Jantrawut P; Department of Pharmaceutical Sciences, Faculty of Pharmacy; Cluster of Research and Development of Pharmaceutical and Natural Products Innovation for Human or Animal, Chiang Mai University, Chiang Mai, Thailand., Sommano SR; Cluster of Research and Development of Pharmaceutical and Natural Products Innovation for Human or Animal, Chiang Mai University, Chiang Mai, Thailand; Department of Plant and Soil Sciences, Faculty of Agriculture., Phimolsiripol Y; School of Agro-Industry, Faculty of Agro-Industry, Chiang Mai University, Chiang Mai, Thailand., Carmona FD; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain. Electronic address: dcarmona@ugr.es.

Publikováno v: Journal of dermatological science [J Dermatol Sci] 2023 Feb; Vol. 109 (2), pp. 102-105. Date of Electronic Publication: 2023 Feb 14.

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.

Autor: Cerván-Martín M; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Lopes AM; Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S), Porto, Portugal.; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.; Center for Predictive and Preventive Genetics, Institute for Cell and Molecular Biology, University of Porto, Porto, Portugal., Bossini-Castillo L; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Rivera-Egea R; Andrology Laboratory and Sperm Bank, IVI-RMA Valencia, Valencia, Spain.; IVI Foundation, Health Research Institute La Fe, Valencia, Spain., Garrido N; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.; Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain., Lujan S; Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain., Romeu G; Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain., Santos-Ribeiro S; IVI-RMA Lisbon, Lisbon, Portugal.; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Castilla JA; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.; Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Granada, Spain.; CEIFER Biobanco - GAMETIA, Granada, Spain., Carmen Gonzalvo M; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.; Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Granada, Spain., Clavero A; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.; Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Granada, Spain., Maldonado V; UGC de Obstetricia y Ginecología, Complejo Hospitalario de Jaén, Jaén, Spain., Vicente FJ; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.; UGC de Urología, HU Virgen de las Nieves, Granada, Spain., González-Muñoz S; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Guzmán-Jiménez A; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Burgos M; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain., Jiménez R; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain., Pacheco A; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.; Facultad CC Salud, Universidad Alfonso X 'El Sabio', Madrid, Spain., González C; IVI Foundation, Health Research Institute La Fe, Valencia, Spain., Gómez S; IVI Foundation, Health Research Institute La Fe, Valencia, Spain., Amorós D; IVI Foundation, Health Research Institute La Fe, Valencia, Spain., Aguilar J; IVI Foundation, Health Research Institute La Fe, Valencia, Spain., Quintana F; IVI Foundation, Health Research Institute La Fe, Valencia, Spain., Calhaz-Jorge C; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal., Aguiar A; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal., Nunes J; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal., Sousa S; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal., Pereira I; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal., Pinto MG; Centro de Medicina Reprodutiva, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal., Correia S; Centro de Medicina Reprodutiva, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal., Sánchez-Curbelo J; Laboratory of Seminology and Embryology, Andrology Service, Fundació Puigvert, Barcelona, Spain., López-Rodrigo O; Laboratory of Seminology and Embryology, Andrology Service, Fundació Puigvert, Barcelona, Spain., Martín J; Instituto de Parasitología y Biomedicina 'López-Neyra', IPBLN-CSIC, PTS Granada, Granada, Spain., Pereira-Caetano I; Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon, Portugal., Marques PI; Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S), Porto, Portugal.; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal., Carvalho F; Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S), Porto, Portugal.; Serviço de Genética, Departamento de Patologia, Faculdade de Medicina, Universidade do Porto, Porto, Portugal., Barros A; Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S), Porto, Portugal.; Serviço de Genética, Departamento de Patologia, Faculdade de Medicina, Universidade do Porto, Porto, Portugal., Gromoll J; Institute of Reproductive and Regenerative Biology, Centre of Reproductive Medicine and Andrology, University of Münster, University Clinics, Münster, Germany., Bassas L; Laboratory of Seminology and Embryology, Andrology Service, Fundació Puigvert, Barcelona, Spain., Seixas S; Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S), Porto, Portugal.; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal., Gonçalves J; Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon, Portugal.; ToxOmics - Centro de Toxicogenómica e Saúde Humana, Nova Medical School, Lisbon, Portugal., Larriba S; Human Molecular Genetics Group, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Palomino-Morales RJ; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain. rpm@ugr.es.; Departamento de Bioquímica y Biología Molecular I, Universidad de Granada, Granada, Spain. rpm@ugr.es., Carmona FD; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain. dcarmona@ugr.es.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain. dcarmona@ugr.es.

Publikováno v: Communications biology [Commun Biol] 2022 Nov 10; Vol. 5 (1), pp. 1220. Date of Electronic Publication: 2022 Nov 10.

A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels.

Autor: Schubert M; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, North Rhine-Westphalia 48149, Germany., Pérez Lanuza L; Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Münster, North Rhine-Westphalia 48149, Germany., Wöste M; Institute of Medical Informatics, University of Münster, Münster, North Rhine-Westphalia 48149, Germany., Dugas M; Institute of Medical Informatics, University of Münster, Münster, North Rhine-Westphalia 48149, Germany.; Institute of Medical Informatics, Heidelberg University Hospital, D-69120 Heidelberg, Germany., Carmona FD; Department of Genetics and Institute of Biotechnology, University of Granada, Granada, Andalusia 18016, Spain.; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Andalusia 18012, Spain., Palomino-Morales RJ; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Andalusia 18012, Spain.; Department of Biochemistry and Molecular Biology I, Faculty of Sciences, University of Granada, Granada, Andalusia 18071, Spain., Rassam Y; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, North Rhine-Westphalia 48149, Germany., Heilmann-Heimbach S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital, Bonn, North Rhine-Westphalia 53127, Germany., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, North Rhine-Westphalia 48149, Germany., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, North Rhine-Westphalia 48149, Germany., Gromoll J; Institute of Reproductive and Regenerative Biology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, North Rhine-Westphalia 48149, Germany.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Jul 14; Vol. 107 (8), pp. 2350-2361.