Heritable disorders of oxygen sensing
نویسندگان
چکیده
منابع مشابه
Heritable thoracic aortic disorders.
PURPOSE OF REVIEW Disease of the wall of the thoracic aorta has many causes: inflammation, infection and atherosclerosis are the most common 'acquired' causes, but even these have genetic predispositions. This article deals with aortic disease due to mutations in specific genes. The conditions can affect tissues and organs other than the aorta (syndromic) or be limited to the aorta (nonsyndromi...
متن کاملHeritable disorders of the RANKL/OPG/RANK signaling pathway.
Figure 7 summarizes the heritable disorders identified to date that directly involve the RANKL/OPG/RANK signaling pathway in humans. Activating mutations in TNFRSF11A encoding RANK and deactivating mutations in TNFRSF11B encoding OPG cause systemic bone disease (FEO, PDB2, ESH and JPD) featuring accelerated bone turnover, low bone mass, deafness early in life, and loss of dentition by enhancing...
متن کاملThe association of hereditary neuropathies and heritable skeletal disorders.
We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.
متن کاملHeritable Filaggrin Disorders: The Paradigm of Atopic Dermatitis.
Heritable Filaggrin Disorders: The Paradigm of Atopic Dermatitis W.H. Irwin McLean and Alan D. Irvine Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; National Children’s Research Centre, Dublin, Ireland; Department of Paediatric Dermatology, Our Lady’s Children’s Hospital, Dublin, Ireland and Department...
متن کاملThe fate of nephrons in congenital and heritable renal disorders
Most chronic kidney disease in infants and children results from congenital anomalies of the kidneys and urinary tract, including obstructive nephropathy. Although less common, inherited disorders such as polycystic kidney disease (PKD) and cystinosis also lead to progressive tubular injury and nephron loss. At the present time, therapies to slow progression of kidney disease are mainly directe...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2021
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.62250