SAM syndrome is characterized by extensive phenotypic heterogeneity

Autor: Ofer Sarig, Liat Samuelov, Stavit Allon Shalev, Gilles G. Lestringant, J. Mohamad, Eran Cohen Barak, Shahar Taiber, Eli Sprecher

Publikováno v: Experimental Dermatology. 27:787-790

Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe er

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d522d5e57af741e4f7211573705b59
https://doi.org/10.1111/exd.13551

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Autor: Ofer Sarig, M. Pavlovsky, Alon Peled, Kiril Malovitski, Eli Sprecher, Shahar Taiber, Tom Rabinowitz, Noam Shomron, J. Mohamad, Liat Samuelov, Noam Adir, Gilles G. Lestringant, Joshua D. Milner, L. Malki

Publikováno v: Clinical and experimental dermatologyReferences. 46(1)

Background Palmoplantar keratoderma (PPK) refers to a large group of disorders characterized by extensive genetic and phenotypic heterogeneity. PPK diagnosis therefore increasingly relies upon genetic analysis. Aim To delineate the genetic defect und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df910cf4769ae1d0dd36c2b2063d392
https://pubmed.ncbi.nlm.nih.gov/32683719

Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

Autor: Roland Kruse, Regina C. Betz, Jorge Frank, Sandra Hanneken, Arno Rütten, Susanne Pulimood, J. Fischer, Gilles G. Lestringant, Sabrina Wolf, Sumita Danda, Holger Thiele, Divya Pachat, Maria Wehner, Günter Fritz, F. Buket Basmanav, Janine Altmüller, Sabine Hoffjan, Anette Bygum

Publikováno v: Basmanav, F B, Fritz, G, Lestringant, G G, Pachat, D, Hoffjan, S, Fischer, J, Wehner, M, Wolf, S, Thiele, H, Altmüller, J, Pulimood, S A, Rütten, A, Kruse, R, Hanneken, S, Frank, J, Danda, S, Bygum, A & Betz, R C 2015, ' Pathogenicity of POFUT1 in Dowling-Degos Disease : Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura ', Journal of Investigative Dermatology, vol. 135, no. 2, pp. 615-618 . https://doi.org/10.1038/jid.2014.406

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f001d15b7645fd0513c39f8728dd9b
https://doi.org/10.1038/jid.2014.406

283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population

Autor: G. Bach, Ofer Sarig, Liat Samuelov, S. Tiaber, Eli Sprecher, Stavit A. Shalev, Tom Rabinowitz, Reuven Bergman, N. Malchin, Noam Shomron, V. Molho-Pessach, Eran Cohen-Barak, Ora Bitterman-Deutsch, Avikam Harel, Arti Nanda, J. Mohamad, John A. McGrath, B. Garty, M. Eskin-Schwartz, J. Mashiach, Gilles G. Lestringant

Publikováno v: Journal of Investigative Dermatology. 138:S48

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::de9516fd727c42430ad4025001f7c119
https://doi.org/10.1016/j.jid.2018.03.289

Association of human renin gene haplotype with essential hypertension in an isolated population

Autor: Awais M. Bokhari, Gilles G. Lestringant, Philippe M. Frossard, Hasan Parvez

Publikováno v: Biogenic Amines. 19:79-88

Among the many candidates that could be implicated in underlying an individual's genetic susceptibility to human essential hypertension (EHT), the renin gene (REN) is particularly appealing because of its central role in the renin-angiotensin-aldoste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cabb9f3ae5f8683534a1bf86307f56f3
https://doi.org/10.1163/1569391053722764