O
Ofer Sarig
Researcher at Tel Aviv Sourasky Medical Center
Publications - 99
Citations - 1762
Ofer Sarig is an academic researcher from Tel Aviv Sourasky Medical Center. The author has contributed to research in topics: Gene & Biology. The author has an hindex of 21, co-authored 78 publications receiving 1385 citations.
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Journal ArticleDOI
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Liat Samuelov,Ofer Sarig,Robert M. Harmon,Debora Rapaport,Akemi Ishida-Yamamoto,Ofer Isakov,Jennifer L. Koetsier,Andrea Gat,Ilan Goldberg,Reuven Bergman,Reuven Bergman,Ronen Spiegel,O. Eytan,O. Eytan,Shamir Geller,Sarit Peleg,Noam Shomron,Christabelle S M Goh,Neil J. Wilson,Frances J.D. Smith,Elizabeth Pohler,Michael A. Simpson,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine,Mia Horowitz,John A. McGrath,Kathleen J. Green,Eli Sprecher,Eli Sprecher +29 more
TL;DR: The deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect and is linked to a number of genes encoding allergy-related cytokines.
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Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.
Robert M. Harmon,Cory L. Simpson,Jodi L. Johnson,Jennifer L. Koetsier,Adi D. Dubash,Nicole A. Najor,Ofer Sarig,Eli Sprecher,Kathleen J. Green +8 more
TL;DR: A mechanism by which DSG1 and Erbin cooperate to repress MAPK signaling and promote keratinocyte differentiation is suggested and may explain the observed epidermal defects.
Journal ArticleDOI
CEDNIK syndrome results from loss-of-function mutations in SNAP29
Dana Fuchs-Telem,H. Stewart,Debora Rapaport,Janna Nousbeck,Andrea Gat,M. Gini,Y. Lugassy,Steffen Emmert,Katja Martina Eckl,Hans Christian Hennies,Ofer Sarig,Dorit Goldsher,Benjamin Meilik,Akemi Ishida-Yamamoto,Mia Horowitz,Eli Sprecher +15 more
TL;DR: Decrease in SNAP29 expression was found to result in abnormal lamellar granule maturation leading to aberrant epidermal differentiation and ichthyosis.
Journal ArticleDOI
A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
Shirli Israeli,Ziyad Khamaysi,Dana Fuchs-Telem,Dana Fuchs-Telem,Janna Nousbeck,Reuven Bergman,Ofer Sarig,Eli Sprecher,Eli Sprecher +8 more
TL;DR: A late-onset form of recessive ichthyosis in a large consanguineous pedigree is described using a combination of homozygosity mapping and positional candidate-gene screening to identify a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family.
Journal ArticleDOI
Functional Characterization of SAMD9, a Protein Deficient in Normophosphatemic Familial Tumoral Calcinosis
Dov Hershkovitz,Dov Hershkovitz,Yonit Gross,Sagi Nahum,Shiran Yehezkel,Ofer Sarig,Jouni Uitto,Eli Sprecher,Eli Sprecher +8 more
TL;DR: The data indicate that SAMD9, an IFN-γ-responsive protein, interacts with RGL2 to diminish the expression of EGR1, a protein of direct relevance to the pathogenesis of ectopic calcification and inflammation.