Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects
نویسندگان
چکیده
منابع مشابه
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
Harlequin ichthyosis (HI), which is the most severe genodermatosis, is caused by loss-of-function mutations in ABCA12, a member of the ATP-binding cassette transporter family. To investigate the pathomechanism of HI and the function of the ABCA12 protein, we generated ABCA12-deficient mice (Abca12(-/-)) by targeting Abca12. Abca12(-/-) mice closely reproduce the human HI phenotype, showing mark...
متن کاملHarlequin ichthyosis (or harlequin fetus)
The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...
متن کاملFetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse mode...
متن کاملHarlequin ichthyosis: Case report
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
متن کاملHarlequin ichthyosis: A rare case
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare ...
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: Human Molecular Genetics
سال: 2008
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddn204