نتایج جستجو برای: ژن rab27a

تعداد نتایج: 16136  

ژورنال: :genetics in the 3rd millennium 0
سپیده شاه کرمی sepideh shahkarami immunology, asthma & allergy research institute, tehran university of medical sciences 2- national institute of genetic engineering and biotechnology, no. 62, dr. gharib st, keshavarz blvd, tehran, iran p.o. box 14185-863, tehran, 14194, iran.تهران، بلوار کشاورز، خیابان دکتر قریب، مرکز طبی کودکان, مرکز تحقیقات ایمونولوژی، آسم و آلرژی، کد پستی۱٤۱٩٤، مسعود هوشمند masoud hooshmand امیر علی حمیدیه amir ali hamidieh زهرا پورپاک zahra poorpak

نشانگان گریسلی نوع 2 یک بیماری اتوزومی مغلوب است. علائم ظاهری بیماری شامل تغییر رنگ موها به نقره ای، همراه با نقص ایمنی اولیه است. جهش در ژنrab27a مسؤول ایجاد این بیماری است. در این گزارش، جهش مسؤول ایجاد نشانگان گریسلی در پسر 3 ساله ای که با علائم ذکرشده ارجاع شده بود، معرفی می شود. این بیمار دچار علائم بالینی دال بر نقص ایمنی اولیه و موی نقره ای درخشان بود. پدر و مادر این بیمار ازدواج خویشاون...

2017
Xia Li Haiying Wang Qinggan Ni Zhiyuan Tang Jun Ni Liqin Xu Hua Huang Songshi Ni Jian Feng

Rab27a, a member of the Rab protein family, can regulate the tumor microenvironment and promote the development of the tumor. Elevated expression of Rab27a is closely connected with many human cancers containing non-small cell lung cancer (NSCLC). But the role of Rab27a in non-small cell lung cancer and its possible mechanism is particularly unclear. In this research, we explored the effect of ...

Journal: :Neuro-oncology 2022

Abstract Rab27 is a GTPase involved in the biogenesis of extracellular vesicles (EVs) and cellular secretion pathway. Among two isoforms (a b) Rab27a has been identified regulating angiogenesis during development wound healing via VEGFR1. Here, we show that plays role stability brain vasculature including pathological glioblastoma.. Thus, relative to wild-type C57bl/6 (WT) double heterozygous R...

2010
Alberto Fraile-Ramos Victoria Cepeda Edo Elstak Peter van der Sluijs

Human cytomegalovirus (HCMV) completes its final envelopment on intracellular membranes before it is released from the cell. The mechanisms underlying these processes are not understood. Here we studied the role of Rab27a, a regulator of lysosome-related organelle transport, in HCMV production. HCMV infection increased Rab27a expression, and recruitment of Rab27a to membranous strutures at the ...

Journal: :Infection and immunity 2011
Jennifer L Johnson Hong Hong Jlenia Monfregola Sergio D Catz

Genetic defects in the Rab27a or Munc13-4 gene lead to immunodeficiencies in humans, characterized by frequent viral and bacterial infections. However, the role of Rab27a and Munc13-4 in the regulation of systemic inflammation initiated by Gram-negative bacterium-derived pathogenic molecules is currently unknown. Using a model of lipopolysaccharide-induced systemic inflammation, we show that Ra...

2017
Jia Liu Xue Gong Xingwang Zhu Dongwei Xue Yili Liu Ping Wang

Overexpression of Rab27A has been found in human cancers. However, the clinical significance and biological effects of Rab27A in bladder cancer tissues and cell lines have not been investigated. Here, we checked Rab27A protein in 87 cases of bladder cancer using immunohistochemistry. We found that Rab27A was overexpressed in 39 of 87 (44.8%) cancer cases. Significant association was found betwe...

Journal: :Blood 2009
Stephanie M Wood Marie Meeths Samuel C C Chiang Anne Grete Bechensteen Jaap J Boelens Carsten Heilmann Hisanori Horiuchi Steen Rosthøj Olga Rutynowska Jacek Winiarski Jennifer L Stow Magnus Nordenskjöld Jan-Inge Henter Hans-Gustaf Ljunggren Yenan T Bryceson

The autosomal recessive immunodeficiencies Griscelli syndrome type 2 (GS2) and familial hemophagocytic lymphohistiocytosis type 3 (FHL3) are associated with loss-of-function mutations in RAB27A (encoding Rab27a) and UNC13D (encoding Munc13-4). Munc13-4 deficiency abrogates NK-cell release of perforin-containing lytic granules induced by signals for natural and antibody-dependent cellular cytoto...

2011
Abul K Tarafder Christina Wasmeier Ana C Figueiredo Antonia E G Booth Asumi Orihara Jose S Ramalho Alistair N Hume Miguel C Seabra

Rab GTPases are important determinants of organelle identity and regulators of vesicular transport pathways. Consequently, each Rab occupies a highly specific subcellular localization. However, the precise mechanisms governing Rab targeting remain unclear. Guanine nucleotide exchange factors (GEFs), putative membrane-resident targeting factors and effector binding have all been implicated as cr...

Journal: :The Journal of Cell Biology 2001
Alistair N. Hume Lucy M. Collinson Andrzej Rapak Anita Q. Gomes Colin R. Hopkins Miguel C. Seabra

Rab GTPases are regulators of intracellular membrane traffic. We report a possible function of Rab27a, a protein implicated in several diseases, including Griscelli syndrome, choroideremia, and the Hermansky-Pudlak syndrome mouse model, gunmetal. We studied endogenous Rab27a and overexpressed enhanced GFP-Rab27a fusion protein in several cultured melanocyte and melanoma-derived cell lines. In p...

Journal: :Molecular biology of the cell 2004
Tanya Tolmachova Ross Anders Jane Stinchcombe Giovanna Bossi Gillian M Griffiths Clare Huxley Miguel C Seabra

Vesicular transport is a complex multistep process regulated by distinct Rab GTPases. Here, we show for the first time that an EGFP-Rab fusion protein is fully functional in a mammalian organism. We constructed a PAC-based transgenic mouse, which expresses EGFP-Rab27a under the control of endogenous Rab27a promoter. The EGFP-Rab27a transgene was fully functional and rescued the two major defect...

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