نتایج جستجو برای: hsan type iv

تعداد نتایج: 1486865  

Journal: :Journal of neurology, neurosurgery, and psychiatry 2005
C J Klein Y Wu K E Kruckeberg S J Hebbring S A Anderson J M Cunningham P J B Dyck D M Klein S N Thibodeau P J Dyck

BACKGROUND The variable clinical features of hereditary sensory and autonomic neuropathy (HSAN I) suggest heterogeneity. Some cases of idiopathic sensory neuropathy could be caused by missense mutations of SPTLC1 and RAB7 and not be recognised as familial. OBJECTIVE To screen persons with dominantly inherited HSAN I and others with idiopathic sensory neuropathies for known mutations of SPTLC1...

2001
Tomas Werner Frederik Schaffalitzky Andrew Zisserman

We describe a method of automated reconstruction of buildings from a set of uncalibrated photographs. The method proceeds in two steps (i) Recovering the camera corresponding to each photograph and a set of sparse scene features using uncalibrated structure from motion techniques developed in the Computer Vision community. (ii) A novel plane-sweep algorithm which progressively constructs a piec...

Journal: :Journal of biomolecular screening 2016
Bernard Fermini Jules C Hancox Najah Abi-Gerges Matthew Bridgland-Taylor Khuram W Chaudhary Thomas Colatsky Krystle Correll William Crumb Bruce Damiano Gul Erdemli Gary Gintant John Imredy John Koerner James Kramer Paul Levesque Zhihua Li Anders Lindqvist Carlos A Obejero-Paz David Rampe Kohei Sawada David G Strauss Jamie I Vandenberg

For the past decade, cardiac safety screening to evaluate the propensity of drugs to produce QT interval prolongation and Torsades de Pointes (TdP) arrhythmia has been conducted according to ICH S7B and ICH E14 guidelines. Central to the existing approach are hERG channel assays and in vivo QT measurements. Although effective, the present paradigm carries a risk of unnecessary compound attritio...

Journal: :The Journal of biological chemistry 2011
Yannick J Bomble Gregg T Beckham James F Matthews Mark R Nimlos Michael E Himmel Michael F Crowley

Most bacteria use free enzymes to degrade plant cell walls in nature. However, some bacteria have adopted a different strategy wherein enzymes can either be free or tethered on a protein scaffold forming a complex called a cellulosome. The study of the structure and mechanism of these large macromolecular complexes is an active and ongoing research topic, with the goal of finding ways to improv...

2014
Aijaz Shah Irshad Ahmad

Congenital insensitivity to pain with anhidrosis is a rare genetic disorder of peripheral nervous system characterised by recurrent episode of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature and self mutilating behavior. We are presenting a eight year old female with CIPA who have pus discharge and pathological fracture of anterior mandible .Sural nerve biopsy r...

Journal: :Science advances 2016
Qi Xu Michael G Resch Kara Podkaminer Shihui Yang John O Baker Bryon S Donohoe Charlotte Wilson Dawn M Klingeman Daniel G Olson Stephen R Decker Richard J Giannone Robert L Hettich Steven D Brown Lee R Lynd Edward A Bayer Michael E Himmel Yannick J Bomble

Clostridium thermocellum is the most efficient microorganism for solubilizing lignocellulosic biomass known to date. Its high cellulose digestion capability is attributed to efficient cellulases consisting of both a free-enzyme system and a tethered cellulosomal system wherein carbohydrate active enzymes (CAZymes) are organized by primary and secondary scaffoldin proteins to generate large prot...

2006
A Safari A A Khaledi M Vojdani

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities remain intact or minimally impaired. The patient also may exhibit the signs of self-mutilation, mental retardation and little or no perspiration. We present a 10 years old Iranian patient diagnosed wit...

Journal: :Journal of bacteriology 1998
S B Bintrim J C Ensign

The entomopathogenic bacterium Photorhabdus luminescens exhibits phase variation when cultured in vitro. The variant forms of P. luminescens are pleiotropic and are designated phase I and phase II variants. One of the characteristic phenotypes of phase I cells is the production of two types of intracellular protein inclusions. The genes encoding the protein monomers that form these inclusions, ...

2015
Qingli Wang Shanna Guo Guangyou Duan Guifang Xiang Ying Ying Yuhao Zhang Xianwei Zhang Li Yong

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions.In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious sti...

Journal: :The European respiratory journal 1996
J Ishikawa M Ichinose M Miura N Kageyama H Yamauchi M Tomaki Y Sasaki K Shirato

Leukotriene D4-(LTD4) has been reported to cause tachykinin release from airway sensory nerves. However, the functional significance of endogenously released tachykinins in LTD4-mediated airway responses has not been fully clarified. The aim of this study was to investigate whether LTD4-induced airway responses are due, in part, to tachykinin release in guinea-pigs. Airway plasma exudation and ...

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