Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

AKIN, LEYLA; rizzoti, karine; GREGORY PhD, Dr LOUISE CHERYL; Corredor Andrés, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; mouilleron, stephane; capra, valeria; MCGLACKEN-BYRNE, SINEAD; Martos-Moreno, Gabriel Ángel; Azmanov, Dimitar; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; MAGHNIE, Mohamad; Gucev, Zoran; GONEN, ZEYNEP BURCIN; Pérez-Jurado, Luis A; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/54599

Title:	Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency
Authors:	AKIN, LEYLA rizzoti, karine GREGORY PhD, Dr LOUISE CHERYL Corredor Andrés, Beatriz Le Quesne Stabej, Polona Williams, Hywel Buonocore, Federica mouilleron, stephane capra, valeria MCGLACKEN-BYRNE, SINEAD Martos-Moreno, Gabriel Ángel Azmanov, Dimitar Kendirci, Mustafa Kurtoglu, Selim Suntharalingham, Jenifer P Galichet, Christophe Gustincich, Stefano Tasic, Velibor Achermann, John Accogli, Andrea Filipovska, Aleksandra Tuilpakov, Anatoly MAGHNIE, Mohamad Gucev, Zoran GONEN, ZEYNEP BURCIN Pérez-Jurado, Luis A Robinson, Iain Lovell-Badge, Robin Argente, Jesús Dattani, Mehul View more
Filiation:	Hospital Infantil Universitario Niño Jesús, Madrid, Spain. Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey The Francis Crick Institute, London, United Kingdom. UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom UCL Great Ormond Street Institute of Child Health, University College London Genetics and Genomic Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genova, Italy. Universidad Autónoma de Madrid, Instituto de Salud Carlos III, Madrid, Spain. CIBER Fisiopatología Obesidad y Nutrición (CIBERobn) The University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia Faculty of Medicine, Erciyes University, Kayseri, Turkey Istituto Italiano di Tecnologia - IIT, Genova, Italy University Children's Hospital, Medical School, Skopje, North Macedonia Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, Canada The University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia; Telethon Kids Institute, Perth Children's Hospital, Nedlands, Western Australia, Research Centre for Medical Genetics, Moscow, Russia Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Department of Paediatrics, IRCCS Giannina Gaslini Institute, Genoa, Italy. Genome and Stem Cell Center, Erciyes University, Kayseri, Turkey. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) IMDEA Food Institute, Campus of International Excellence UAM+CSIC, Madrid, Spain. UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom Health and Medical Research Institute (SAHMRI) View more
Keywords:	Growth hormone deficiency Hypopituitarism Minor spliceosome Primary ovarian insufficiency U12-type spliceosome View more
Mesh:	Animals Female Humans Male Mice Nuclear Proteins Pedigree Phenotype Prolactin RNA-Binding Proteins Hypopituitarism Primary Ovarian Insufficiency View more
Issue Date:	Feb-2022
Publisher:	Elsevier BV
Citation:	Genet Med.2022 02;(24)2:384-397
Abstract:	We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.
PMID:	34906446
URI:	https://hdl.handle.net/20.500.12530/54599
Rights:	info:eu-repo/semantics/openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos

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