Aicha Salhi
University of Algiers
11 Papers
20 Citations
Aicha Salhi is an academic researcher from University of Algiers. The author has contributed to research in topics: Cutis laxa & Mutation. The author has an hindex of 9, co-authored 11 publications.
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Papers
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Nicole Revencu,Laurence M. Boon,Antonella Mendola,Maria R. Cordisco,Josée Dubois,Philippe Clapuyt,Frank Hammer,David J. Amor,Alan D. Irvine,Eulalia Baselga,Anne Dompmartin,S. Syed,Ana Martín-Santiago,Lesley C. Adès,Felicity Collins,Janine Smith,Sarah A. Sandaradura,Victoria R. Barrio,Patricia E. Burrows,Francine Blei,Mariarosaria Cozzolino,Nicola Brunetti-Pierri,Asunción Vicente,Marc Abramowicz,Julie Désir,Catheline Vilain,Wendy K. Chung,Ashley Wilson,Carol A. Gardiner,Yim Dwight,David J.E. Lord,Leona Fishman,Cheryl Cytrynbaum,Sarah L. Chamlin,Fred Ghali,Yolanda Gilaberte,Shelagh Joss,María del Carmen Boente,Christine Léauté-Labrèze,Marie Ange Delrue,Susan J. Bayliss,Loreto Martorell,María Antonia González-Enseñat,Juliette Mazereeuw-Hautier,Brid O'Donnell,Didier Bessis,Reed E. Pyeritz,Aicha Salhi,Oon T. Tan,Orli Wargon,John B. Mulliken,Miikka Vikkula +51 more
TL;DR: In conclusion, mutations in RASA1 underscore the specific CM–AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs, and the high incidence of fast‐flow lesions warrants careful clinical and radiologic examination, and regular follow‐up.
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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Mustapha Amyere,Nicole Revencu,Raphaël Helaers,Eleonore Pairet,Eulalia Baselga,Maria R. Cordisco,Wendy K. Chung,Josée Dubois,Jean-Philippe Lacour,Loreto Martorell,Juliette Mazereeuw-Hautier,Reed E. Pyeritz,David J. Amor,Annouk Bisdorff,Francine Blei,Hannah M Bombei,Anne Dompmartin,David G. Brooks,Juliette Dupont,María Antonia González-Enseñat,Ilona J. Frieden,Marion Gérard,Malin Kvarnung,Andrea Hanson-Kahn,Louanne Hudgins,Christine Léauté-Labrèze,Catherine McCuaig,Denise W. Metry,Philippe Parent,Carle Paul,Florence Petit,A. Phan,Isabelle Quéré,Aicha Salhi,Anne M. Turner,Pierre Vabres,Asunción Vicente,Orli Wargon,Shoji Watanabe,Lisa Weibel,Ashley Wilson,Marcia C. Willing,John B. Mulliken,Laurence M. Boon,Miikka Vikkula +44 more
TL;DR: The data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.
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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Romain Lévy,Romain Lévy,Romain Lévy,Satoshi Okada,Satoshi Okada,Vivien Béziat,Vivien Béziat,Kunihiko Moriya,Kunihiko Moriya,Caini Liu,Louis Yi Ann Chai,Louis Yi Ann Chai,Mélanie Migaud,Mélanie Migaud,Fabian Hauck,Amein Al Ali,Cyril Cyrus,Chittibabu Vatte,Turkan Patiroglu,Ekrem Unal,Marie Ferneiny,Nobuyuki Hyakuna,Serdar Nepesov,Matías Oleastro,Aydan Ikinciogullari,Figen Dogu,Takaki Asano,Osamu Ohara,Ling Yun,Ling Yun,Erika Della Mina,Erika Della Mina,Didier Bronnimann,Didier Bronnimann,Yuval Itan,Florian Gothe,Jacinta Bustamante,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Natalia Tahuil,Caner Aytekin,Aicha Salhi,Saleh Al Muhsen,Masao Kobayashi,Julie Toubiana,Laurent Abel,Laurent Abel,Laurent Abel,Xiaoxia Li,Yildiz Camcioglu,Fatih Celmeli,Christoph Klein,Suzan A AlKhater,Jean-Laurent Casanova,Anne Puel,Anne Puel,Anne Puel +57 more
TL;DR: Twenty-one patients from 12 unrelated kindreds, homozygous for 12 different mutant alleles that underlie AR IL-17RA deficiency are reported, including this first patient.
155
IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response
Frank Oeffner,Gayle Fischer,Rudolf Happle,Arne König,Regina C. Betz,Dorothea Bornholdt,Ulrike Neidel,María del Carmen Boente,Silke Redler,Javier Romero-Gomez,Aicha Salhi,Ángel Vera-Casaño,Christian Weirich,Karl-Heinz Grzeschik +13 more
TL;DR: The findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress.
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Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene.
Aicha Salhi,Dorothea Bornholdt,Frank Oeffner,Sajid Malik,Ernest Heid,Rudolf Happle,Karl-Heinz Grzeschik +6 more
TL;DR: Mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21, whereas CYLD remained as a candidate.
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