A
Ariana Kariminejad
Researcher at VU University Medical Center
Publications - 130
Citations - 3063
Ariana Kariminejad is an academic researcher from VU University Medical Center. The author has contributed to research in topics: Exome sequencing & Hypotonia. The author has an hindex of 26, co-authored 124 publications receiving 2505 citations. Previous affiliations of Ariana Kariminejad include Yahoo!.
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Journal ArticleDOI
Osteogenesis Imperfecta: A Review with Clinical Examples.
F.S. Van Dijk,J. M. Cobben,Ariana Kariminejad,Alessandra Maugeri,Peter G.J. Nikkels,R.R. van Rijn,Gerard Pals +6 more
TL;DR: This review aims to highlight the current knowledge around the history, epidemiology, pathogenesis, clinical/radiological features, management, and future prospects of OI.
Journal ArticleDOI
Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum
Verena Matejas,Bernward B. Hinkes,Bernward B. Hinkes,Faisal F. Alkandari,Lihadh Al-Gazali,Ellen E. Annexstad,Mehmet Baha Aytac,Margaret Barrow,Květa Bláhová,Detlef Bockenhauer,Hae Il H.I. Cheong,Iwona Maruniak-Chudek,Pierre Cochat,Jörg Dötsch,Priya Gajjar,Raoul C.M. Hennekam,Françoise Janssen,Mikhail Kagan,Ariana Kariminejad,Markus J. Kemper,Jens Koenig,Jillene J. Kogan,Hester Y. Kroes,Eberhard Kuwertz-Bröking,Amy Feldman Lewanda,Ana Medeira,Jutta Muscheites,Patrick Niaudet,Michel M. Pierson,Anand A. Saggar,Laurie L. Seaver,Mohnish Suri,Alexey A. Tsygin,Elke Wühl,Aleksandra Zurowska,Steffen Uebe,Friedhelm Hildebrandt,Corinne Antignac,Martin Zenker,Martin Zenker +39 more
TL;DR: The majority of disease‐causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin β2 function is the molecular basis of Pierson syndrome.
Journal ArticleDOI
Mutations in PLK4 , encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Carol Anne Martin,Ilyas Ahmad,Ilyas Ahmad,Anna Klingseisen,Muhammad Sajid Hussain,Louise S. Bicknell,Andrea Leitch,Gudrun Nürnberg,Mohammad R. Toliat,Jennie E. Murray,David Hunt,Fawad Khan,Zafar Ali,Sigrid Tinschert,Sigrid Tinschert,James Ding,Charlotte Keith,Margaret E. Harley,Patricia Heyn,Rolf Müller,Ingrid Hoffmann,Valérie Cormier Daire,Hélène Dollfus,Lucie Dupuis,Anu Bashamboo,Ken McElreavey,Ariana Kariminejad,Roberto Mendoza-Londono,Anthony T. Moore,Anthony T. Moore,Anand Saggar,Catie Schlechter,Richard G. Weleber,Holger Thiele,Janine Altmüller,Wolfgang Höhne,Matthew E. Hurles,Angelika A. Noegel,Shahid Mahmood Baig,Peter Nürnberg,Andrew P. Jackson +40 more
TL;DR: It is established that different levels of impaired PLK4 activity result in growth and cilia phenotypes, providing a mechanism by which microcephaly disorders can occur with or without ciliopathic features.
Journal ArticleDOI
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Jan Senderek,Jan Senderek,Juliane S. Müller,Marina Dusl,Tim M. Strom,Velina Guergueltcheva,Irmgard Diepolder,Steven H. Laval,Susan Maxwell,Judy Cossins,Sabine Krause,Nuria Muelas,Juan J. Vílchez,Jaume Colomer,Cecilia Jimenez Mallebrera,Andrés Nascimento,Shahriar Nafissi,Ariana Kariminejad,Yalda Nilipour,Bita Bozorgmehr,Hossein Najmabadi,Carmelo Rodolico,J. P. Sieb,Ortrud K. Steinlein,Beate Schlotter,Benedikt Schoser,Janbernd Kirschner,Ralf Herrmann,Thomas Voit,Anders Oldfors,Christopher Lindbergh,Andoni Urtizberea,Maja von der Hagen,Angela Hübner,Jacqueline Palace,Kate Bushby,Volker Straub,David Beeson,Angela Abicht,Hanns Lochmüller +39 more
TL;DR: Downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development, providing further impetus to study the glycobiology of NMJ and synapses in general.
Journal ArticleDOI
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
Fransiska Malfait,Ariana Kariminejad,Tim Van Damme,Caroline Gauche,Delfien Syx,Faten Merhi-Soussi,Sandrine Gulberti,Sofie Symoens,Suzanne Vanhauwaert,Andy Willaert,Bita Bozorgmehr,Mohamad Hasan Kariminejad,Nazanin Ebrahimiadib,Ingrid Hausser,Ann Huysseune,Sylvie Fournel-Gigleux,Anne De Paepe +16 more
TL;DR: In vitro wound healing assay revealed a significant delay in fibroblasts from two index individuals, pointing to a role for glycosaminoglycan defect in impaired wound repair in vivo, and a crucial role for β3GalT6 in multiple major developmental and pathophysiological processes.