Tag : recessive

Cardiology

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

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Related Articles Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans. Am J Hum Genet. 2020 Nov 20;:...
Dermatology

Preclinical evaluation of a modified HSV-1 vector encoding human TGM1 for the treatment of autosomal recessive congenital ichthyosis (ARCI).

Newsemia
Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of cornification diseases associated with severe clinical complications and decreased quality of life. Germline mutations in...
Cardiology

Emaciation, Congestive Heart Failure, and Systemic Amyloidosis in Severe Recessive Dystrophic Epidermolysis Bullosa: Possible Internal Complications Due to Skin-Derived Inflammatory Cytokines Derived from the Injured Skin.

Newsemia
Related Articles Emaciation, Congestive Heart Failure, and Systemic Amyloidosis in Severe Recessive Dystrophic Epidermolysis Bullosa: Possible Internal Complications Due to Skin-Derived Inflammatory Cytokines Derived from...
Dermatology

QR-313, an antisense oligonucleotide, shows therapeutic efficacy for treatment of dominant and recessive dystrophic epidermolysis bullosa: a preclinical study

Newsemia
Dystrophic epidermolysis bullosa (DEB) is a blistering skin disease caused by mutations in the gene COL7A1 encoding collagen VII. DEB can be inherited in a...
Neurology

Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Newsemia
The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate...
Dermatology

Losartan as disease modulating therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB).

Newsemia
Related Articles Losartan as disease modulating therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB). Dermatol Ther. 2020 Sep 05;:e14279 Authors: Inamadar AC Abstract A six-year-old child...
Dermatology

Induced Remission of Metastatic Squamous Cell Carcinoma with an Immune Checkpoint Inhibitor in a Patient with Recessive Dystrophic Epidermolysis Bullosa.

Newsemia
Related Articles Induced Remission of Metastatic Squamous Cell Carcinoma with an Immune Checkpoint Inhibitor in a Patient with Recessive Dystrophic Epidermolysis Bullosa. Case Rep Oncol....
Latest News

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Newsemia
Ilyas, M; Efthymiou, S; Salpietro, V; Noureen, N; Zafar, F; Rauf, S; Mir, A; Ilyas, M; Efthymiou, S; Salpietro, V; Noureen, N; Zafar, F; Rauf,...
Latest News

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Newsemia
Scala, M; Mojarrad, M; Riazuddin, S; Brigatti, KW; Ammous, Z; Cohen, JS; Hosny, H; … Maroofian, R; + view all Scala, M; Mojarrad, M; Riazuddin,...
Latest News

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Newsemia
Bauwens, M; Garanto, A; Sangermano, R; Naessens, S; Weisschuh, N; De Zaeytijd, J; Khan, M; … De Baere, E; + view all Bauwens, M; Garanto,...

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