Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Congenital scoliosis (CS) is a complex genetic disorder characterized by vertebral malformations. The precise etiology of CS is not fully defined. Here, we identify that mutation in dual serine/threonine and tyrosine protein kinase (dstyk) lead to CS-like vertebral malformations in zebrafish. We
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
BACKGROUND
Hyper-immunoglobulin E recurrent infection syndromes (HIES) has characteristic features and identified mutations. This study investigated clinical features and causal candidate mutations in Taiwanese patients with the HIES phenotype on referral base over 23 million
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Congenital scoliosis is a condition characterized by spinal curvature beyond the physiological norm. The molecular mechanisms underlying the pathogenesis of congenital scoliosis are beginning to be clarified; however, the genes related to congenital scoliosis are still unknown. We herein report the
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
OBJECTIVE
To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red hair in a family with brittle cornea syndrome (BCS).
METHODS
Eight family members in three generations underwent ophthalmic, dental, and general medical examinations,
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Specific classes of de novo heterozygous gain-of-function pathogenic variants of the PDGFRB (platelet-derived growth factor receptor-beta) cause a distinctive overgrowth syndrome, named the Kosaki overgrowth syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
A 33-year-old man was referred to our hospital because of intractable cellulitis in his left lower leg. He was diagnosed with agammaglobulinemia at the age of 6 years and had been receiving gamma-globulin supplementation since then. Laboratory examination revealed a markedly reduced number of B
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
SHP-2 (encoded by PTPN11) is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple different cell surface receptors. Humans with germline SHP-2 mutations develop Noonan syndrome or LEOPARD syndrome, which are characterized by cardiovascular, neurological
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by atopic manifestations and susceptibility to infections with extracellular bacteria and fungi, which frequently occur in the skin and lung. Atopic manifestations in HIES include extremely high serum IgE levels, eczema and
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Fibroblast growth factor receptor 3 (Fgfr3) is a tyrosine kinase receptor expressed in developing bone, cochlea, brain and spinal cord. Achondroplasia, the most common genetic form of dwarfism, is caused by mutations in FGFR3. Here we show that mice homozygous for a targeted disruption of Fgfr3
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Nonimmunological abnormalities, including a distinctive facial appearance, fracture
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. We mapped the locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL
Den mest kompletta databasen med medicinska örter som stöds av vetenskapen
Fungerar på 55 språk
Växtbaserade botemedel som stöds av vetenskap
Örter igenkänning av bild
Interaktiv GPS-karta - märka örter på plats (kommer snart)
Läs vetenskapliga publikationer relaterade till din sökning
Sök efter medicinska örter efter deras effekter
Organisera dina intressen och håll dig uppdaterad med nyheterna, kliniska prövningar och patent
Skriv ett symptom eller en sjukdom och läs om örter som kan hjälpa, skriv en ört och se sjukdomar och symtom den används mot. * All information baseras på publicerad vetenskaplig forskning