نتایج جستجو برای: slc26a4

تعداد نتایج: 451  

ژورنال: :genetics in the 3rd millennium 0
مرجان مجتبوی نائینی marjan mojtabavi naeini صادق ولیان بروجنی sadeq vallian borujeni مرتضی هاشم زاده چالشتری morteza hashemzadeh chaleshtori

جهش های ژن slc26a4 پس از ژن gjb2 مهم ترین عامل ژنتیکی ایجاد کننده ناشنوایی غیر سندرمی با وراثت اتوزومی مغلوب (autosomal recessive non-syndromic hearing loss, arnshl) هستند که امروزه در تشخیص های مولکولی مورد بررسی قرار می گیرند. در پایگاه داده ها تعداد زیادی از مارکرهای str مرتبط با این ناحیه معرفی شده است. در این مطالعه، خصوصیات و اطلاع دهندگی مارکر d7s2420 با توالی های تکراری ca، که در ناحیه ...

2015
Monica Sala-Rabanal Zeynep Yurtsever Kayla N. Berry Tom J. Brett

Chloride transport proteins play critical roles in inflammatory airway diseases, contributing to the detrimental aspects of mucus overproduction, mucus secretion, and airway constriction. However, they also play crucial roles in contributing to the innate immune properties of mucus and mucociliary clearance. In this review, we focus on the emerging novel roles for a chloride channel regulator (...

Journal: :The Journal of clinical endocrinology and metabolism 2005
Valérie Porra Carole Ferraro-Peyret Christine Durand Samia Selmi-Ruby Hélène Giroud Nicole Berger-Dutrieux Myriam Decaussin Jean-Louis Peix Claire Bournaud Jacques Orgiazzi Françoise Borson-Chazot Robert Dante Bernard Rousset

SLC5A8, proposed as a thyroid apical iodide transporter, was recently defined as a Na+-coupled transporter of short-chain fatty acid. To document the expression pattern of SLC5A8 in the thyroid, we analyzed the regulation of its expression in normal human thyrocytes in culture and in tissues with distinct functional activity. To determine whether SLC5A8 expression is altered in all thyroid carc...

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 ...

2017
Yock-Ping Chow Nor Azian Abdul Murad Zamzureena Mohd Rani Jia-Shiun Khoo Pei-Sin Chong Loo-Ling Wu Rahman Jamal

BACKGROUND Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS Whole exome sequencing was performed on 2 sisters with PDS and the...

1998
Chris Simpson Martin Ward Paul O’Brien James Reeves

We present infrared photometry and optical and infrared spectroscopy of the recentlydiscovered, extremely luminous nearby quasar PDS 456. A number of broad emission features are seen in the near-infrared which we are unable to identify. We measure a more accurate redshift from a narrow forbidden emission line and compare the optical–infrared spectrum to that of 3C 273. The close similarity sugg...

2017
Megan Delisle Justin Rivard Pamela Hebbard Brendan McCarthy Debrah Wirtzfeld

Background The benefits of mentorship on residents are well established. The current state of mentorship in General Surgery (GS) residency programs in Canada is unknown. The objectives of this study were to obtain GS residents' and program directors' (PD) perspectives on resident mentorship. Study Design An electronic survey was developed and distributed to all 601 GS residents in Canada. All...

Journal: :Archives of Otolaryngology–Head & Neck Surgery 2008

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