Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function. - Wikidata - wikimedia - TriplyDB

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

http://www.wikidata.org/entity/Q37005267

about

Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells Novel therapies for the treatment of pertussis disease Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay Iodide excess regulates its own efflux: a possible involvement of pendrin.Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants.American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models.Molecular and functional characterization of human pendrin and its allelic variants.Screening of SLC26A4 gene in autoimmune thyroid diseases.Etiologic and diagnostic evaluation: algorithm for severe to profound sensorineural hearing loss in Brazil.Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues.The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

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P2860

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

http://www.wikidata.org/entity/Q37005267

description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

@en

Identification of allelic variants of pendrin

@nl

type

label

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

@en

Identification of allelic variants of pendrin

@nl

prefLabel

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

@en

Identification of allelic variants of pendrin

@nl

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Cellular Physiology and Biochemistry

P1476

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.

@en

P2093

Aigerim Bizhanova

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Charity Nofziger

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Emanuele Bernardinelli

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Josef Ramsauer

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Markus Paulmichl

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Peter Kopp

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Silvia Dossena

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P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

The epithelial anion transporter pendrin is induced by allergy and rhinovirus infection, regulates airway surface liquid, and increases airway reactivity and inflammation in an asthma model

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex

Dissecting asthma using focused transgenic modeling and functional genomics

Molecular analysis of the PDS gene in Pendred syndrome

Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease

Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels

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467-476

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scholarly article

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10.1159/000335108

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3

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28

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Markus Paulmichl

Charity Nofziger

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2011-11-18T00:00:00Z

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22116359

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3709191

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