Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Silvia Dossena; Charity Nofziger; Zippora Brownstein; Moien Kanaan; Karen B Avraham; Markus Paulmichl

doi:10.1159/000335109

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Silvia Dossena (First author)
, Charity Nofziger (Co-author)
, Zippora Brownstein
, Moien Kanaan
, Karen B Avraham
, Markus Paulmichl^* (Last author)

^*Corresponding author for this work

Institute of Pharmacology and Toxicology

Research output: Contribution to journal › Original Article › peer-review

24 Citations (Web of Science)

Original language	English
Pages (from-to)	477-484
Journal	Cellular physiology and biochemistry
Volume	28
Issue number	3
DOIs	https://doi.org/10.1159/000335109
Publication status	Published - 2011

Keywords

GENOTYPE-PHENOTYPE CORRELATION
HEARING-LOSS
VESTIBULAR AQUEDUCT
IODIDE EFFLUX
SYNDROME GENE
SLC26A4 GENE
INNER-EAR
WILD-TYPE
BICARBONATE SECRETION
ENDOPLASMIC-RETICULUM

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10.1159/000335109

Transcriptional regulation of SLC24A4 (pendrin), a protein causing Pendred-Syndrome, a human hereditary disease associated with deafness and goiter
Paulmichl, M. (PI)
19/02/10 → 18/02/12
Project: Research

Cite this

@article{9a4baa1d4fc042028d7de1b0d0701f31,

title = "Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.",

keywords = "GENOTYPE-PHENOTYPE CORRELATION, HEARING-LOSS, VESTIBULAR AQUEDUCT, IODIDE EFFLUX, SYNDROME GENE, SLC26A4 GENE, INNER-EAR, WILD-TYPE, BICARBONATE SECRETION, ENDOPLASMIC-RETICULUM",

author = "Silvia Dossena and Charity Nofziger and Zippora Brownstein and Moien Kanaan and Avraham, \{Karen B\} and Markus Paulmichl",

year = "2011",

doi = "10.1159/000335109",

language = "English",

volume = "28",

pages = "477--484",

journal = "Cellular physiology and biochemistry",

issn = "1015-8987",

number = "3",

}

TY - JOUR

T1 - Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

AU - Dossena, Silvia

AU - Nofziger, Charity

AU - Brownstein, Zippora

AU - Kanaan, Moien

AU - Avraham, Karen B

AU - Paulmichl, Markus

PY - 2011

Y1 - 2011

KW - GENOTYPE-PHENOTYPE CORRELATION

KW - HEARING-LOSS

KW - VESTIBULAR AQUEDUCT

KW - IODIDE EFFLUX

KW - SYNDROME GENE

KW - SLC26A4 GENE

KW - INNER-EAR

KW - WILD-TYPE

KW - BICARBONATE SECRETION

KW - ENDOPLASMIC-RETICULUM

U2 - 10.1159/000335109

DO - 10.1159/000335109

M3 - Original Article

C2 - 22116360

SN - 1015-8987

VL - 28

SP - 477

EP - 484

JO - Cellular physiology and biochemistry

JF - Cellular physiology and biochemistry

IS - 3

ER -

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Keywords

Access to Document

Projects

Transcriptional regulation of SLC24A4 (pendrin), a protein causing Pendred-Syndrome, a human hereditary disease associated with deafness and goiter

Cite this