Diagnostics of hereditary connective tissue disorders by genetic next-generation sequencing

MK Pope, A Ratajska, H Johnsen… - Genetic testing and …, 2019 - liebertpub.com
connective tissue constitutes a large portion of the human body and pathological changes
may affect many organs. Hereditary connective tissue disorders … of the connective tissue (Van …

Diversity in heritable disorders of connective tissue at a single center

RH Hsu, YH Chien, WL Hwu, NC Lee - Connective Tissue …, 2021 - Taylor & Francis
Background Heritable disorders of connective tissue (HDCT) is a heterogeneous group of
conditions caused by defects in genes responsible for extracellular matrix elements. Although …

An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome

A Martin - European Journal of Medical Genetics, 2019 - Elsevier
… One would argue hEDS is another all-encompassing classification for heritable connective
tissue disorders and or acquired musculoskeletal conditions without a definitive molecular …

Hereditary connective tissue disorders

DR Murdock, HC Dietz III, G MacCarrick - Handbook of Clinical Adult …, 2020 - Elsevier
A connective tissue disorder is any disease that impacts the structures between cells,
typically impacting collagen or elastin protein production or function. Heritable disorders of …

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

R Bascom, JR Schubart, S Mills, T Smith… - American Journal of …, 2019 - Wiley Online Library
… Defining the disease phenotypes for these rare disorders is a continuing challenge. Because
connective tissue is ubiquitous in the human body, the hereditary HDCT affect multiple …

Heritable connective tissue disorders in childhood: increased fatigue, pain, disability and decreased general health

…, Pediatric Heritable Connective Tissue Disorders Study … - Genes, 2021 - mdpi.com
connective tissue disorders, the European Reference Network (ERN) Skin-Mendelian connective
tissue disorders … children and adolescents with (heritable) connective tissue disorders”. …

[HTML][HTML] Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

S Renner, H Schüler, M Alawi, V Kolbe… - Genetics in …, 2019 - Elsevier
… We analyzed 199 individuals with hereditary aortopathy or related connective tissue
disorder. The majority of patients had vascular complications such as TAAD, carotid artery …

Connective tissue and age-related diseases

CA Sarbacher, JT Halper - Biochemistry and Cell Biology of Ageing: Part II …, 2019 - Springer
disorders are characterized by accelerated signs and symptoms of ageing. Other hereditary
… of genes encoding for components of connective tissue and are less common than diseases …

Connective tissue disorders in domestic animals

JH Roberts, J Halper - Progress in Heritable Soft Connective Tissue …, 2021 - Springer
… Though soft tissue disorders have been recognized and described to some detail in several
Hereditary equine regional dermal asthenia (HERDA), or hyperelastosis cutis, has been …

Reactive oxygen species and oxidative stress in the pathogenesis and progression of genetic diseases of the connective tissue

G Egea, F Jiménez-Altayó, V Campuzano - Antioxidants, 2020 - mdpi.com
… This review addresses the involvement of oxidative stress in the pathogenesis and progression
of connective tissue genetic diseases, of which most of them belong to the large family of …