Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders
characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from …
characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from …
[HTML][HTML] Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation …
D Rots, E Chater-Diehl, AJM Dingemans… - The American Journal of …, 2021 - cell.com
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …
Epidermolysis bullosa simplex due to bi‐allelic DST mutations: Case series and review of the literature
D Ganani, K Malovitski, O Sarig, A Gat… - Pediatric …, 2021 - Wiley Online Library
Background Epidermolysis bullosa simplex (EBS) is a heterogeneous group of inherited
disorders characterized by skin fragility due to intraepidermal separation. Most cases result …
disorders characterized by skin fragility due to intraepidermal separation. Most cases result …
[HTML][HTML] Autoantibodies to BPAG1e trigger experimental bullous pemphigoid in mice
E Makita, Y Matsuzaki, T Fukui, A Matsui… - Journal of Investigative …, 2021 - Elsevier
Bullous pemphigoid (BP) is an autoimmune blistering disease that targets the
hemidesmosomal proteins BP180 and BP230/BPAG1e. Whereas the role of anti-BP180 …
hemidesmosomal proteins BP180 and BP230/BPAG1e. Whereas the role of anti-BP180 …
[HTML][HTML] Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
A Urbizu, ME Garrett, K Soldano, O Drechsel, D Loth… - PLoS …, 2021 - journals.plos.org
Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils
below the foramen magnum and the presence of headaches and other neurologic …
below the foramen magnum and the presence of headaches and other neurologic …
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy
Y Capri, L Bourmance, C Dupont… - Clinical …, 2023 - Wiley Online Library
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by
multiple joint contractures resulting from reduced or absent fetal movements. Through whole …
multiple joint contractures resulting from reduced or absent fetal movements. Through whole …
[HTML][HTML] Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum
TJ Sproule, RY Wilpan, JJ Wilson, BE Low, Y Kabata… - Plos one, 2023 - journals.plos.org
The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to
demonstrate that significant genetic modification of EB symptoms is possible, identifying as …
demonstrate that significant genetic modification of EB symptoms is possible, identifying as …
A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review
RP Sakaria, MP Fonville, S Peravali… - American Journal of …, 2022 - Wiley Online Library
The DST gene is located on chromosome 6p and encodes for a large protein. Alternative
splicing of this protein produces the neuronal (a1–a3), muscular (b1–b3), and epithelial (e) …
splicing of this protein produces the neuronal (a1–a3), muscular (b1–b3), and epithelial (e) …
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
Objective To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small
family with 2 affected siblings, one of whom had cerebellar features on examination …
family with 2 affected siblings, one of whom had cerebellar features on examination …
[HTML][HTML] Genome-wide analysis of dysregulated RNA-binding proteins and alternative splicing genes in keloid
Z Zhu, S Ni, J Zhang, Y Yuan, Y Bai, X Yin… - Frontiers in …, 2023 - frontiersin.org
Introduction: The pathogenesis of keloids remains unclear. Methods: In this study, we
analyzed RNA-Seq data (GSE113619) of the local skin tissue of 8 keloid-prone individuals …
analyzed RNA-Seq data (GSE113619) of the local skin tissue of 8 keloid-prone individuals …