Literature DB >> 33666035

A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.

Sahana M Srinivas1, Puneetha Basavanaik1, Aruna Gowdra2.   

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Year:  2021        PMID： 33666035     DOI： 10.25259/IJDVL_374_19

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN： 0378-6323            Impact factor:   2.545


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  6 in total

1.  Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.

Authors:  C Has; T Jakob; Y He; D Kiritsi; I Hausser; L Bruckner-Tuderman
Journal:  Br J Dermatol       Date:  2014-11-28       Impact factor: 9.302

2.  Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Authors:  M Cecilia Poli; Frédéric Ebstein; Sarah K Nicholas; Marietta M de Guzman; Lisa R Forbes; Ivan K Chinn; Emily M Mace; Tiphanie P Vogel; Alexandre F Carisey; Felipe Benavides; Zeynep H Coban-Akdemir; Richard A Gibbs; Shalini N Jhangiani; Donna M Muzny; Claudia M B Carvalho; Deborah A Schady; Mahim Jain; Jill A Rosenfeld; Lisa Emrick; Richard A Lewis; Brendan Lee; Barbara A Zieba; Sébastien Küry; Elke Krüger; James R Lupski; Bret L Bostwick; Jordan S Orange
Journal:  Am J Hum Genet       Date:  2018-05-24       Impact factor: 11.025

Review 3.  SAM syndrome is characterized by extensive phenotypic heterogeneity.

Authors:  Shahar Taiber; Liat Samuelov; Janan Mohamad; Eran Cohen Barak; Ofer Sarig; Stavit Allon Shalev; Gilles Lestringant; Eli Sprecher
Journal:  Exp Dermatol       Date:  2018-07       Impact factor: 3.960

4.  Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

Authors:  John Y W Lee; Assem Farag; Amira Tawdy; Lu Liu; Magdalene Michael; Ellie Rashidghamat; Sophia Aristodemou; Chao-Kai Hsu; Michael A Simpson; Maddy Parsons; John A McGrath
Journal:  J Dermatol Sci       Date:  2017-12-02       Impact factor: 4.563

5.  Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

Authors:  Maeve A McAleer; Elizabeth Pohler; Frances J D Smith; Neil J Wilson; Christian Cole; Stuart MacGowan; Jennifer L Koetsier; Lisa M Godsel; Robert M Harmon; Robert Gruber; Debra Crumrine; Peter M Elias; Michael McDermott; Karina Butler; Annemarie Broderick; Ofer Sarig; Eli Sprecher; Kathleen J Green; W H Irwin McLean; Alan D Irvine
Journal:  J Allergy Clin Immunol       Date:  2015-06-12       Impact factor: 10.793

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

Authors:  Liat Samuelov; Ofer Sarig; Robert M Harmon; Debora Rapaport; Akemi Ishida-Yamamoto; Ofer Isakov; Jennifer L Koetsier; Andrea Gat; Ilan Goldberg; Reuven Bergman; Ronen Spiegel; Ori 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; Mia Horowitz; John A McGrath; Kathleen J Green; Eli Sprecher
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330
  6 in total

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