نتایج جستجو برای: hsan type iv

تعداد نتایج: 1486865  

Journal: :Functional neurology 2002
Fablo Maria Corsi Silvia Fausti Mariano Serrao Carlo Casali Leoluca Parisi Giuseppe Piazza

The aim of this study was to evaluate A-delta fibre function in a patient with hereditary sensory-autonomic neuropathy (HSAN). We used the mixed and cutaneous silent period techniques in addition to a conventional electromyographic investigation in a patient with type 2 HSAN, a rare disease characterised by wide-spread sensory and variable autonomic dysfunction caused by incomplete development ...

2016
Keiko Yamada Junhui Yuan Tomoo Mano Hiroshi Takashima Masahiko Shibata

BACKGROUND Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. To the best of our knowledge, no cases of an autonomic disorder have been reported clearly in a patient with WNK/HSN2 gene mutation and only one case of a Japanese patient with the WNK/HSN2 gene mutation...

2012
Mehran KARIMI Razieh FA LLAH

Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory autonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomal recessive disorder initially described by Swanson in 1963. We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran. The symptoms included recurrent episodes of hyperthermia and unexplained fever that began in earl...

Journal: :Human mutation 2011
Annelies Rotthier Anke Penno Bernd Rautenstrauss Michaela Auer-Grumbach Georg M Stettner Bob Asselbergh Kim Van Hoof Heinrich Sticht Nicolas Lévy Vincent Timmerman Thorsten Hornemann Katrien Janssens

Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy leading to progressive distal sensory loss and severe ulcerations. Mutations in SPTLC1 and SPTLC2, encoding the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids, have been reported to cause HSAN-I. Here,...

Journal: :Applied and environmental microbiology 2012
Jan Krauss Vladimir V Zverlov Wolfgang H Schwarz

Artificial cellulase complexes active on crystalline cellulose were reconstituted in vitro from a native mix of cellulosomal enzymes and CipA scaffoldin. Enzymes containing dockerin modules for binding to the corresponding cohesin modules were prepared from culture supernatants of a C. thermocellum cipA mutant. They were reassociated to cellulosomes via dockerin-cohesin interaction. Recombinant...

Journal: :Journal of bacteriology 2013
Daniel G Olson Richard J Giannone Robert L Hettich Lee R Lynd

The CipA scaffoldin protein plays a key role in the Clostridium thermocellum cellulosome. Previous studies have revealed that mutants deficient in binding or solubilizing cellulose also exhibit reduced expression of CipA. To confirm that CipA is, in fact, necessary for rapid solubilization of crystalline cellulose, the gene was deleted from the chromosome using targeted gene deletion technologi...

Journal: :dental research journal 0
ahmad moghareh abed rasool heidari pestekan jaber yaghini seyed mohammad razavi mohammad tavakoli mohammad amjadi

background: decalcified freeze-dried bone allograft (dfdba) may have the potential to enhance bone formation around dental implants. our aim in this study was the evaluation and comparison of two types of dfdba in treatment of dehiscence defects around euroteknika ® implants in dogs.     methods: in this prospective clinical trial animal study, all mandibular premolars of three iranian dogs wer...

Journal: :مجله دانشگاه علوم پزشکی همدان 0
محمدرضا نیکروش mohammadreza nikravesh مهدی جلالی mahdi jalali عباسعلی معین abbas ali moeen محمدحسن کریمفر mohammad hasan karimfar شبنم محمدی shabnam mohammadi هوشنگ رفیقدوست hooshang rafighdoost

introduction & objective: the brain choroids plexus (bcp) plays an important role in the cerebrospinal fluid (csf) production, but its characterization is still incomplete. collagen type iv, is one of the most important proteins of basement membrane (bm) and extracellular matrix (ecm) of bcp. in the present study we investigated the differential period of type iv collagen in basement membrane o...

Journal: :international journal of reproductive biomedicine 0
somayyeh sadat tahajjodi maryam amerion nasser mahdavi shahri mehdi jalali mohammad reza nikravesh

background: nicotine can pass through placental blood barrier and accumulate in the developing organs of fetus. also, entering the breast milk, nicotine can have an effect on the neonates. investigations have showed that collagen iv is one of the most important micro vessels basement membrane components. objective:  in this study, the effect of maternal nicotine exposure in pre and postnatal pe...

Journal: :Journal of Evolution of Medical and Dental Sciences 2015

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