نتایج جستجو برای: higashi syndrome
تعداد نتایج: 622457 فیلتر نتایج به سال:
A 9-year-old girl was admitted to hospital with a 1-month history of fever, weight loss, epistaxis, and abdominal pain. The girl’s parents were non-consanguineous. Her medical history was unremarkable. Upon admission she weighed 27 kg (25th-50th percentile), was 131 cm tall (50th percentile), and was pale. Physical examination showed multiple cervical and inguinal microlymphadenopathies, withou...
To the Editor, The letter entitled “A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome”, written by Karabel et al. and published in a recent issue of your journal, was quite interesting [1]. Here we would like to emphasize some relevant points. A number of systemic diseases, including hematologic disorders, do have manifestations in the orofacial region. Although non-pathognomonic...
Beige (C57BL/6J-bgj/bgj) mice are the murine counterpart of the Chédiak-Higashi syndrome, exhibiting abnormal lysosomes in phagocytes. These mice, however, responded normally to Corynebacterium parvum killed bacterial vaccine with splenomegaly and an increase in peritoneal macrophages. The C. parvum-elicited macrophages showed normal immunoglobulin G Fc- and C3b-mediated rosettes and phagocytos...
The beige and Chediak-Higashi syndrome (BEACH)-domain containing proteins constitute a new family of proteins found in all eukaryotes. The function of these proteins, which include the Chediak-Higashi syndrome (CHS) protein, Neurobeachin, LvsA, and FAN, is still poorly understood. To understand the diversity of this novel protein family, we analyzed a large array of BEACH-family protein sequenc...
The beige mouse is an animal model for the human Chediak-Higashi syndrome, a disease characterized by giant lysosomes in most cell types. In mice, treatment with androgenic hormones causes a 20-50-fold elevation in at least one kidney lysosomal enzyme, beta-glucuronidase. Beige mice treated with androgen had significantly higher kidney beta-glucuronidase, beta-galactosidase, and N-acetyl-beta-D...
Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mice. Here we report the sequences of two major mRNA isoforms of the CHS gene in ...
Perforin-mediated cytotoxicity is important for controlling viral infections, but also for limiting immune reactions. Failure of this cytotoxic pathway leads to hemophagocytic lymphohistiocytosis (HLH), a life-threatening disorder of uncontrolled T-cell and macrophage activation. We studied susceptibility to HLH in 2 mouse strains (souris and beige(J)) and a cohort of patients with partial defe...
The BEACH family of proteins is a novel group of proteins with diverse roles in eukaryotic cells. The identifying feature of these proteins is the BEACH domain named after the founding members of this family, the mouse beige and the human Chediak-Higashi syndrome proteins. Although all BEACH proteins share a similar structural organization, they appear to have very distinct cellular roles, rang...
We study the structure of Yukawa couplings in intersecting D6-branes wrapping a fac-torizable 6-torus compact space T 6. Models with MSSM-like spectrum are analyzed and found to fail in predicting the quark mass spectrum because of the way in which the family structure for the left-handed, right-handed quarks and, eventually, the Higgses is 'factorized' among the different tori. In order to cir...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید