نتایج جستجو برای: harlequin ichthyosis

تعداد نتایج: 2442  

Journal: :Human molecular genetics 2008
Teruki Yanagi Masashi Akiyama Hiroshi Nishihara Kaori Sakai Wataru Nishie Shinya Tanaka Hiroshi Shimizu

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...

Journal: :PLoS Genetics 2008
Ian Smyth Douglas F. Hacking Adrienne A. Hilton Nigora Mukhamedova Peter J. Meikle Sarah Ellis Keith Slattery Janelle E. Collinge Carolyn A. de Graaf Melanie Bahlo Dmitri Sviridov Benjamin T. Kile Douglas J. Hilton

Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles known as lamellar bodies. However, the nature and scope of this regulation remains unclear. As part of an original recessive mouse ENU mutagenes...

Journal: :Journal of economic entomology 2013
Anna K Wallingford Thomas P Kuhar Douglas G Pfeiffer Dorothea B Tholl Joshua H Freeman Hélène B Doughty Peter B Schultz

Harlequin bug, Murgantia histrionica (Hahn) (Hemiptera: Pentatomidae), is a piercing-sucking pest of cole crops, causing cosmetic damage in low populations, while heavy pest pressure can kill plants or entire fields. Field studies were conducted to evaluate a trap crop for control of harlequin bug in collard. Field-cage choice tests found that potential trap crop plant species, mustard (Brassic...

2010
N. A. McCutchen

The relationship between Harlequin Duck Histrionicus histrionicus distribution and stonefly (Plecoptera) nymph availability in the Maligne Valley watershed, Jasper National Park, Canada, was investigated from 1999 to 2000. Invertebrate sampling and duck counts were concentrated in the Maligne Lake Outlet (MLO), Middle Maligne River and Lower Maligne River. Harlequin Ducks were more likely to us...

Journal: :Comparative biochemistry and physiology. Part A, Molecular & integrative physiology 2008
Peter B Nilsson Tuula E Hollmén Shannon Atkinson Kendall L Mashburn Pamela A Tuomi Daniel Esler Daniel M Mulcahy Daniel J Rizzolo

Little is known about baseline concentrations of adrenal hormones and hormonal responses to stress in sea ducks, although significant population declines documented in several species suggest that sea ducks are exposed to increased levels of environmental stress. Such declines have been observed in geographically distinct harlequin duck populations. We performed an adrenocorticotropic hormone (...

Ahmad Farhat, Ashraf Mohamadzadeh Reza Saeedi, Shadi Noorizadeh

Background: Collodion baby is a rare condition (i.e., 1:300000 birth), which is referred to a neonate covered with a tight and shiny membrane desquamating within two weeks. This condition takes place as a result of the epidermal cornification disorder. Given the impairment of the skin barrier function, these neonates are at the risk of several complications, including hypernatremic dehydration,...

Journal: :The British journal of ophthalmology 1956
L H SAVIN

IN the complete form of this familial syndrome males suffer from corneal dystrophy, congenital ichthyosis (ichthyosis simplex), and allergic manifestations such as asthma and hay fever. The complete syndrome was noted in two patients. Other male members had corneal dystrophy and allergy, corneal dystrophy and ichthyosis, ichthyosis alone, ichthyosis and allergy, or asthma (Fig. 1). Except for t...

Journal: :Journal of Investigative Dermatology 2023

Harlequin ichthyosis is a life threatening rare skin condition characterized by aberrant differentiation of the epidermis leading to severe barrier defect. It caused mutations in ABCA12 lipid transporter involved transport glucosylceramides from lamellar body lamellae. The current therapeutic approach consists topical emollients and oral administration retinoids causing side effects, so there a...

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