J
Jean Pierre Fryns
Researcher at Katholieke Universiteit Leuven
Publications - 62
Citations - 6399
Jean Pierre Fryns is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Mutation & Missense mutation. The author has an hindex of 38, co-authored 62 publications receiving 6063 citations. Previous affiliations of Jean Pierre Fryns include The Catholic University of America & Universitaire Ziekenhuizen Leuven.
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Journal ArticleDOI
Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease
Marcel R. Nelen,W. C. G. Van Staveren,E. A. J. Peeters,Mohammed Ben Hassel,Robert J. Gorlin,H. Hamm,C. F. Lindboe,Jean Pierre Fryns,Rolf H. Sijmons,D. G. Woods,E.C.M. Mariman,George W. Padberg,Hannie Kremer +12 more
TL;DR: The PTEN/MMAC1 gene, encoding a putative protein tyrosine or dual-specificity phosphatase, is confirmed as the gene for Cowden disease by a refined localization of the gene to the interval between D 10S1761 and D10S541, which contains the PTEN-MMAC 1 gene and by mutation analysis in eight unrelated familial and 11 sporadic patients with Cowden Disease.
Journal ArticleDOI
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
Koenraad Devriendt,Annette S. Kim,Gert Mathijs,Suzanna G M Frints,Marianne Schwartz,Joost van den Oord,Gregor Verhoef,Marc Boogaerts,Jean Pierre Fryns,Daoqi You,Michael K. Rosen,Peter Vandenberghe +11 more
TL;DR: A new disease, X-linked severe congenital neutropenia (XLN), is described, caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD), indicating that loss of WASP autoinhibition is a key event in XLN.
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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Petter Strømme,Marie Mangelsdorf,Marie Mangelsdorf,Marie A. Shaw,Karen M. Lower,Karen M. Lower,Suzanne M E Lewis,Helene Bruyere,Viggo Lütcherath,Agi K. Gedeon,Agi K. Gedeon,Robyn H. Wallace,Ingrid E. Scheffer,Gillian Turner,Michael Partington,Suzanna G M Frints,Jean Pierre Fryns,Grant R. Sutherland,Grant R. Sutherland,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +22 more
TL;DR: This work has identified mutations in an X chromosome–linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation, various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Hilde Brems,Magdalena Chmara,Magdalena Chmara,Mourad Sahbatou,Ellen Denayer,Koji Taniguchi,Reiko Kato,Riet Somers,Riet Somers,Ludwine Messiaen,Sofie De Schepper,Jean Pierre Fryns,Jan Cools,Jan Cools,Peter Marynen,Peter Marynen,Gilles Thomas,Akihiko Yoshimura,Eric Legius +18 more
TL;DR: G germline loss-of-function mutations in SPRED1 in a newly identified autosomal dominant human disorder are reported, the first report of mutations in the SPRY (SPROUTY)/SPRED family of genes in human disease.
Journal ArticleDOI
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
TL;DR: It is concluded that mutations in ZMPSTE24 may cause MAD by affecting prelamin A processing by affecting the mating defect of the haploid MATa yeast lacking STE24 and Ras-converting enzyme 1 (RCE1; another prenylprotein-specific endoprotease) genes.