P
Pierre F. Ray
Researcher at University of Grenoble
Publications - 158
Citations - 7096
Pierre F. Ray is an academic researcher from University of Grenoble. The author has contributed to research in topics: Sperm & Male infertility. The author has an hindex of 42, co-authored 141 publications receiving 5717 citations. Previous affiliations of Pierre F. Ray include Centre national de la recherche scientifique & Joseph Fourier University.
Papers
More filters
Journal ArticleDOI
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Jeanne Amiel,Béatrice Laudier,Tania Attié-Bitach,Ha Trang,Loïc de Pontual,Blanca Gener,Delphine Trochet,Heather C. Etchevers,Pierre F. Ray,Michel Simonneau,Michel Vekemans,Arnold Munnich,Claude Gaultier,Stanislas Lyonnet +13 more
TL;DR: An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported.
Journal ArticleDOI
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Mariem Ben Khelifa,Mariem Ben Khelifa,Mariem Ben Khelifa,Charles Coutton,Charles Coutton,Raoudha Zouari,Thomas Karaouzène,Thomas Karaouzène,John Rendu,John Rendu,Marie Bidart,Marie Bidart,Sandra Yassine,Sandra Yassine,Virginie Pierre,Virginie Pierre,Julie Delaroche,Julie Delaroche,Sylviane Hennebicq,Sylviane Hennebicq,Didier Grunwald,Didier Grunwald,Denise Escalier,Karine Pernet-Gallay,Karine Pernet-Gallay,Pierre-Simon Jouk,Nicolas Thierry-Mieg,Aminata Touré,Aminata Touré,Aminata Touré,Christophe Arnoult,Christophe Arnoult,Pierre F. Ray,Pierre F. Ray +33 more
TL;DR: Infertility was the only symptom of primary ciliary dyskinesia observed in affected subjects, suggesting that DNAH1 function in cilium is not as critical as in sperm flagellum, and genetic etiology is likely in most cases.
Journal ArticleDOI
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.
Klaus Dieterich,Ricardo Soto Rifo,Ricardo Soto Rifo,Anne Karen Faure,Anne Karen Faure,Sylviane Hennebicq,Sylviane Hennebicq,Baha Ben Amar,Mohamed Zahi,Julia Perrin,Delphine Martinez,B. Sèle,B. Sèle,Pierre-Simon Jouk,Théophile Ohlmann,Théophile Ohlmann,Sophie Rousseaux,Sophie Rousseaux,Joël Lunardi,Pierre F. Ray +19 more
TL;DR: It is concluded that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.
Journal ArticleDOI
Absence of Triadin, a Protein of the Calcium Release Complex, is Responsible for Cardiac Arrhythmia with Sudden Death in Human
Nathalie Roux-Buisson,Marine Cacheux,Marine Cacheux,Anne Fourest-Lieuvin,Anne Fourest-Lieuvin,Jérémy Fauconnier,Julie Brocard,Julie Brocard,Isabelle Denjoy,Philippe Durand,Pascale Guicheney,Pascale Guicheney,Florence Kyndt,Antoine Leenhardt,Hervé Le Marec,Hervé Le Marec,V. Lucet,Philippe Mabo,Vincent Probst,Vincent Probst,Nicole Monnier,Pierre F. Ray,Pierre F. Ray,Elodie Santoni,Pauline Trémeaux,Alain Lacampagne,Julien Fauré,Julien Fauré,Joël Lunardi,Joël Lunardi,Isabelle Marty,Isabelle Marty +31 more
TL;DR: TRDN is identified as a new gene responsible for an autosomal recessive form of CPVT, and the mutations identified in the two families lead to the absence of the protein, thereby demonstrating the importance of triadin for the normal function of the cardiac calcium release complex in humans.
Journal ArticleDOI
Teratozoospermia: spotlight on the main genetic actors in the human
Charles Coutton,Jessica Escoffier,Guillaume Martinez,Christophe Arnoult,Pierre F. Ray,Pierre F. Ray +5 more
TL;DR: Molecular studies of numerous unrelated patients with globozoospermia and large-headed spermatozoa confirmed that mutations in DPY19L2 and AURKC are mainly responsible for their respective pathological phenotype, strengthening the emerging point of view that MMAF may be a phenotypic variation of the classical forms of primary ciliary dyskinesia.