Laboratory of
Molecular Dermatology

Ustekinumab therapy for Netherton syndrome.

Samuelov L, Shehadeh W, Sarig O, Gat A, Matz H, Sprecher E. J Dermatol. 2023

 

Cutaneous and Developmental Effects of CARD14 Overexpression in Zebrafish.

Baniel A, Ziv L, Ben-Moshe Z, Sarig O, Mohamad J, Peled A, Rechavi G, Gothilf Y, Sprecher E. Biomedicines. 2022

 

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.

Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E. Am J Med Genet A. 2022

 

A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.

Mohamad J, Sarig O, Beattie P, Malovitski K, Assaf S, O'Toole E, Schwartz J, Evans H, Samuelov L, Sprecher E.

Br J Dermatol. 2022

 

Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.

Assaf S, Vodo D, Malovitski K, Mohamad J, Bergson S, Feller Y, Malki L, Sarig O, Sprecher E. Sci Rep. 2022

 

Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma.

Malovitski K, Sarig O, Assaf S, Mohamad J, Malki L, Bergson S, Peled A, Eskin-Schwartz M, Gat A, Pavlovsky M, Sprecher E. Genet Med. 2022

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Vorinostat, a histone deacetylase inhibitor, as a potential novel treatment for psoriasis.
Samuelov L, Bochner R, Magal L, Malovitski K, Sagiv N, Nousbeck J, Keren A, Fuchs-Telem D, Sarig O, Gilhar A, Sprecher E. Exp Dermatol. 2021.

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Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O. Exp Dermatol. 2020.

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Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.

Mohamad J, Sarig O, Malki L, Rabinowitz T, Assaf S, Malovitski K, Shkury E, Mayer T, Vodo D, Peled A, Daniely D, Pavlovsky M, Shomron N, Samuelov L, Sprecher E. J Invest Dermatol. 2020.

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Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.

Peled A, Samuelov L, Sarig O, Bochner R, Malki L, Pavlovsky M, Pichinuk E, Weil M, Sprecher E. Br J Dermatol. 2020. 

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Variant PADI3 in Central Centrifugal Cicatricial Alopecia.

Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E.

N Engl J Med. 2019.

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Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.

Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. JACI. 2019.

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Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.

Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. J Invest Dermatol. 2018.

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ARCI Revisited and Repositioned.

Mohamad J, Malchin N, Shalev S, Sarig O, Sprecher E. J Invest Dermatol. 2017.

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Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WH, Ast G, Gallo RL, Uitto J, Sprecher E. J Invest Dermatol. 2017.

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Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E. PLoS Genet. 2016.

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Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene.

Vodo D, Sarig O, Geller S, Ben-Asher E, Olender T, Bochner R, Goldberg I, Nosgorodsky J, Alkelai A, Tatarskyy P, Peled A, Baum S, Barzilai A, Ibrahim SM, Zillikens D, Lancet D, Sprecher E. PLoS Genet. 2016.

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SVEP1 plays a crucial role in epidermal differentiation.

Samuelov L, Li Q, Bochner R, Najor NA, Albrecht L, Malchin N, Goldsmith T, Grafi-Cohen M, Vodo D, Fainberg G, Meilik B, Goldberg I, Warshauer E, Rogers T, Edie S, Ishida-Yamamoto A, Burzenski L, Erez N, Murray SA, Irvine AD, Shultz L, Green KJ, Uitto J, Sprecher E, Sarig O. Exp Dermatol. 2016.

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RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.

Warshauer E, Samuelov L, Sarig O, Vodo D, Bindereif A, Kanaan M, Gat U, Fuchs-Telem D, Shomron N, Farberov L, Pasmanik-Chor M, Nardini G, Winkler E, Meilik B, Petit I, Aberdam D, Paus R, Sprecher E, Nousbeck J. Exp Dermatol. 2015.

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Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.

Vodo D, Sarig O, Peled A, Frydman M, Greenberger S, Sprecher E. Exp Dermatol. 2015.

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A mutation in TP63 causing a mild ectodermal dysplasia phenotype.

Goldsmith T, Eytan O, Magal L, Solomon M, Israeli S, Warshauer E, Grafi-Cohen M, Aberdam D, van Bokhoven H, Zhou H, Sarig O, Sprecher E, Nousbeck J. J Invest Dermatol. 2014.

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Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Eytan O, Fuchs-Telem D, Mevorach B, Indelman M, Bergman R, Sarig O, Goldberg I, Adir N, Sprecher E.

J Invest Dermatol. 2014.

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Cole Disease Results from Mutations in ENPP1.

Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E. Am J Hum Genet. 2013.

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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.

Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Nat Genet. 2013.

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