نتایج جستجو برای: ژن smn1

تعداد نتایج: 16245  

2009
Jeremy Lim

We report subarcsecond images of the high-mass star forming region Onsala 1 (ON 1) made with the Submillimeter Array (SMA) at 0.85 mm and the Very Large Array at 1.3 cm and 3.6 cm. ON 1 is one of the smallest ultracompact H II regions in the Galaxy and exhibits various star formation signposts. With our VLA and SMA observations, two new cm-wave sources and five sub-mm dust sources, respectively...

Journal: :The Journal of heredity 2003
L van den Berg S A Versteeg B A van Oost

Although the serotonergic system and htr1A have been studied extensively, little is known about the canine serotonin receptor 1A. We are interested in this receptor in the dog because it is likely to be involved in behavioral disorders such as anxiety. Therefore, we isolated a canine bacterial artificial chromosome (BAC) clone containing htr1A, and, with the help of this clone, the complete can...

Bruszczynska A Liss J Lukaszuk K,

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...

Journal: :Vietnam Journal of Science, Technology and Engineering 2022

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus Disease 2019 (COVID-19), has rapidly spread through entire world and become worst pandemic from December until now. The establishment positive standards for molecular diagnostic testing SARS-CoV-2 plays a critical role in development assessment assays associated with shortage specimens viral culture...

ژورنال: :genetics in the 3rd millennium 0
یوسف شفقتی yousef shafeghati genetics research center, university of social welfare sciences & rehabilitationsarem cell research center and medical genetics department, sarem women hospital, tehran, iran1- مرکز تحقیقات ژنتیک، دانشگاه علوم بهزیستی و توانبخشی، تهران، ایران . پژوهشکده سلول های بنیادی و دپارتمان ژنتیک صارم، بیمارستان زنان صارم، تهران، ایران ایرج فاتحی iraj fatehi neonatology and nicu division. day hospital, tehran, iranبخش نوزادان و nicu بیمارستان دی، تهران، ایران فاطمه گنجی زاده fatemeh ganjizadeh neonatology and nicu division. lolagar hospital, tehran, iran- بخش نوزادان و nicu بیمارستان لولاگر، تهران، ایران پریسا محققی parisa mohagheghi neonatology and nicu division, milad hospital, tehran, iranبخش نوزادان و nicu بیمارستان میلاد، تهران، ایران مهبد کاوه mahbod kaveh neonatology and nicu division. mirza kouchak khan hospital, tehran, iranبخش نوزادان و nicu بیمارستان میرزا کوچک خان، تهران، ایران فاطمه اعلمی هرندی fatemeh aalami harandi neonatology and nicu division, hedayat hospital, tehran, iran- بخش نوزادان و nicu بیمارستان هدایت، تهران، ایران فاطمه سادات نیری

آتروفی های عضلانی نخاعی (smas) از بیماری های شایع ژنتیکی با توارث اتوزومی مغلوب هستند. این بیماری ها از نظر ژنتیکی و فنوتیپی بسیار ناهمگون (هتروژن) هستند. شیوع این بیماری ها را از 1 مورد در 6000 تا 1 مورد در 25000 نوزاد زنده ذکر شده است. بنابراین، فراوانی ناقلان جهش ها 1 در 40 تا 1 در 80 نفر در جمعیت است. بیش از 90 درصد افراد مبتلا بهsma ، فاقد هر دو نسخه اگزون هفتم ژن smn1 هستند. فقدان smn1 به...

2015
Eleni Z Giannopoulou Thomas Martin Brunhilde Wirth Umut Yilmaz Ludwig Gortner Sascha Meyer

Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA.

Journal: :Chemical communications 2014
Chung-An Chen Chun-Chi Wang Yen-Ling Chen Yuh-Jyh Jong Shou-Mei Wu

A "turn on/off" biosensor for diagnosis of exon 7 of the SMN1 gene was developed by employing a "scorpion primer". This scorpion primer was based on the principle of fluorescence resonance energy transfer using a fluorophore, a blocker and a quencher. It was successfully applied to detect 10 volunteer samples, and not only to in vitro testing.

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