نتایج جستجو برای: gjb6

تعداد نتایج: 238  

2002
SHING-MING CHENG IVY CHEN

A growing body of work suggests that the activity of ion channels and pumps is an important regulatory factor in embryonic development. We are beginning to identify functional roles for proteins suggested by a survey of expression of ion channel and pump genes in Xenopus and chick embryos (Rutenberg et al. [2002] Dev Dyn 225, this issue). Here, we report that the ATP-sensitive K channel protein...

2017
Wei Liu Hao Li Fredrik Edin Johan Brännström Rudolf Glueckert Annelies Schrott-Fischer Matyas Molnar Dirk Pacholsky Kristian Pfaller Helge Rask-Andersen

BACKGROUND Mutations in the GJB2 gene, which encodes the Connexin26 (Cx26) protein, are the most common cause of childhood hearing loss in American and European populations. The cochlea contains a gap junction (GJ) network in the sensory epithelium and two connective tissue networks in the lateral wall and spiral limbus. The syncytia contain the GJ proteins beta 2 (GJB2/Cx26) and beta 6 (GJB6/C...

Journal: :Annals of clinical and laboratory science 2008
Juan Rodriguez-Paris Charles Ballay Michelle Inserra Katrina Stidham Tahl Colen Joseph Roberson Phyllis Gardner Iris Schrijver

Using the Hereditary Hearing Loss arrayed primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals with early presbycusis to 50 unaffected controls and aimed to identify possible genetic contributors. This cross-sectional ...

Journal: :European journal of orthodontics 2014
Aysel Mammadova Mignon Mg Ackermans Marjon Bloemen Corien Oostendorp Huiqing Zhou Carine El Carels Johannes W Von den Hoff

BACKGROUND Retinoic acid (RA) is a key regulator of embryonic development and linked to several birth defects including cleft lip and palate (CLP). The aim was to investigate the effects of RA on proliferation and gene expression of human palatal keratinocytes (KCs) in vitro. METHODS KCs from children with and without CLP were cultured with 2 and 5 μM RA. Proliferation was measured by quantif...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2009
Sarah E Lutz Yongmei Zhao Maria Gulinello Sunhee C Lee Cedric S Raine Celia F Brosnan

Astrocytes are coupled via gap junctions (GJs) comprising connexin 43 (Cx43) (Gja1) and Cx30 (Gjb6), which facilitate intercellular exchange of ions. Astrocyte connexins also form heterotypic GJs with oligodendrocytic somata and lamellae. Loss of oligodendrocyte gap junctions results in oligodendrocyte and myelin pathology. However, whether loss of astrocyte GJs affects oligodendrocytes and mye...

2010
Prachi Kothiyal Stephanie Cox Jonathan Ebert Ammar Husami Margaret A Kenna John H Greinwald Bruce J Aronow Heidi L Rehm

BACKGROUND Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SL...

ژورنال: :توانبخشی 0
کیمیا کهریزی kimia kahrizi university of welfare and rehabilitation sciences, tehran, iran.دانشگاه علوم بهزیستی و توانبخشی، تهران، ایران. احمد دانشی ahmad daneshi یاسر ریاض الحسینی yasser riaz-el hosseini کارلا نیشیمورا carla nishimora ریچارد اسمیت richard smith حسین نجم آبادی hossein najm-abadi

کاهش شنوایی، در 1 نفر از 2000 کودک تازه متولدشده دیده می شود که بیش از 50 درصد این موارد را عوامل ژنتیکی دربرمی گیرد. کاهش شنوایی غیرسندرمی بیش از 70 درصد موارد ناشنوایی ارثی را شامل می شود که 85 درصد آن به شکل اتوزومال مغلوب منتقل می شود و وجود بیش از یک صد جایگاه ژنی (locus) برای آن تخمین زده می شود. هدف در این مطالعه تعیین جهش ژنی در یک خانواده ناشنوای غیرسندرمی که دارای دو فرزند مبتلا به نا...

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