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3 articles related to "Atrichia"

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Articles

Original Research

Published on 25 May 2023

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

in Cellular Endocrinology

Pei Jin Lim
Giulio Marcionelli
Pakeerathan Srikanthan
Timothée Ndarugendamwo
Jason Pinner
Marianne Rohrbach
Cecilia Giunta

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1195704

4,876 views
5 citations

Original Research

Published on 21 May 2021

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

in Genetics of Common and Rare Diseases

Pei Jin Lim
Severin Marfurt
Uschi Lindert
Lennart Opitz
Timothée Ndarugendamwo
Pakeerathan Srikanthan
Martin Poms
Martin Hersberger
Claus-Dieter Langhans
Dorothea Haas

Frontiers in Genetics

doi 10.3389/fgene.2021.662751

5,264 views
5 citations

Systematic Review

Published on 16 Apr 2024

Risk of secondary autoimmune diseases with alemtuzumab treatment for multiple sclerosis: a systematic review and meta-analysis

in Multiple Sclerosis and Neuroimmunology

Jianguo Yang
Yuying Sun
Xinpeng Zhou
Di Zhang
Ziqi Xu
Jiaojiao Cao
Bing Fan

Frontiers in Immunology

doi 10.3389/fimmu.2024.1343971

7,034 views
4 citations