نتایج جستجو برای: m34t

تعداد نتایج: 24  

2007
Irina Saraiva Franco Luís Jaime Mota Cláudio Manuel Soares Isabel de Sá-Nogueira

In the absence of arabinose, the AraR transcription factor represses the expression of genes involved in the utilization of arabinose, xylose and galactose in Bacillus subtilis. AraR exhibits a chimeric organization: the N-terminal DNA-binding region belongs to the GntR family and the C-terminal effector-binding domain is homologous to the GalR/LacI family. Here, the AraR-DNA-binding interactio...

Journal: :iranian journal of public health 0
"m hashemzadeh chaleshtori m dowlati dd farhud l hoghooghi rad r sasanfar a hoseinipour m montazer zohour

mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...

Journal: :American journal of human genetics 2005
Rikkert L Snoeckx Patrick L M Huygen Delphine Feldmann Sandrine Marlin Françoise Denoyelle Jaroslaw Waligora Malgorzata Mueller-Malesinska Agneszka Pollak Rafal Ploski Alessandra Murgia Eva Orzan Pierangela Castorina Umberto Ambrosetti Ewa Nowakowska-Szyrwinska Jerzy Bal Wojciech Wiszniewski Andreas R Janecke Doris Nekahm-Heis Pavel Seeman Olga Bendova Margaret A Kenna Anna Frangulov Heidi L Rehm Mustafa Tekin Armagan Incesulu Hans-Henrik M Dahl Desirée du Sart Lucy Jenkins Deirdre Lucas Maria Bitner-Glindzicz Karen B Avraham Zippora Brownstein Ignacio del Castillo Felipe Moreno Nikolaus Blin Markus Pfister Istvan Sziklai Timea Toth Philip M Kelley Edward S Cohn Lionel Van Maldergem Pascale Hilbert Anne-Françoise Roux Michel Mondain Lies H Hoefsloot Cor W R J Cremers Tuija Löppönen Heikki Löppönen Agnete Parving Karen Gronskov Iris Schrijver Joseph Roberson Francesca Gualandi Alessandro Martini Geneviéve Lina-Granade Nathalie Pallares-Ruiz Céu Correia Graça Fialho Kim Cryns Nele Hilgert Paul Van de Heyning Carla J Nishimura Richard J H Smith Guy Van Camp

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutat...

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