Results 41 to 50 of about 8,863 (195)

Spektrum genetischer Schwerhörigkeit im SLC26A4 Gen

GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery, 2015
Einleitung: Mutationen im SLC26A4-Gen gehören zu den häufigsten Ursachen für genetische Schwerhörigkeit. Das breite phänotypische Spektrum reicht vom typischen Pendred-Syndrom bis zu nicht-syndromaler Schwerhörigkeit mit erweitertem, vestibulären Aquädukt (EVA) in der bildgebenden Diagnostik.
Braun, K, Müller, M, Friese, N, Arnold, H, Biskup, S, Löwenheim, H, Tropitzsch, A   +6 more
openaire   +2 more sources

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Journal of Translational Medicine, 2012
Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations.
Li Qi, Zhu Qing-wen, Yuan Yong-yi, Huang Sha-sha, Han Dong-yi, Huang De-liang, Dai Pu   +6 more
doaj   +1 more source

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]

, 2019
BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli, A Garcia Castano, A Sanei-Moghaddam, A Shibli Al, Anoush Azarfar, CM Bates, DB Simon, DB Simon, DB Simon, Dor Mohammad Kordi-Tamandani, Ehsan Ghayoor Karimiani, F Tinsa, Farkhondeh Behjati, FC Bartter, G Morineau, G Vilotijevic-Dautovic, H Blons, H Saneian, HJ Gitelman, I Kurtz, I Pela, I Zelikovic, I Zelikovic, Isabel Schüle, J Souza-Menezes, JJ Gorgojo, JL Wemeau, K Kosicka, K Laghmani, K Nozu, M Konrad, M Soleimani, M Yau, Maryam Najafi, Miriam Schmidts, MJ Galaviz-Ballesteros, MJ McGinniss, MM Dahabreh, N Kandasamy, ND Rendtorff, O Eğrıtaş, P Hoglund, R Birkenhäger, S Baumner, S Makela, S Watanabe, Simin Sadeghi-Bojd, W Reardon, YF Guo, Zeineb Bakey   +49 more
core   +3 more sources

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Genes, 2022
SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated SLC26A4 is not conclusive for having either DFNB4 or PDS.
Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab   +9 more
openaire   +2 more sources

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family [PDF]

, 2014
BACKGROUND: The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and
Bai, Haihua, Chen, Yujie, Guilan,, Liu, Yangjian, Narisu, Narisu, Suyalatu,, Temuribagen,, Wu, Huiguang, Wu, Qizhu, Yang, Xukui   +9 more
core   +2 more sources

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

Disease Markers, 2010
Deleterious mutations ofSLC26A4cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL). However, theSLC26A4hyperactivity was recently associated with the emergence of autoimmune thyroid diseases (AITD) and asthma among human and mouse ...
Hadj-Kacem, Hassen, Kallel, Rihab, Belguith-Maalej, Salima, Mnif, Mouna, Charfeddine, Ilhem, Ghorbel, Abdelmounem, Abid, Mohamed, Ayadi, Hammadi, Masmoudi, Saber   +8 more
openaire   +2 more sources

Fast Fluorometric Method for Measuring Pendrin (SLC26A4) Cl-/I- Transport Activity [PDF]

Cellular Physiology and Biochemistry, 2006
Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by sensorineural hearing loss, often associated with mild thyroid dysfunction and goiter. It is generally assumed that SLC26A4 acts as a chloride/anion exchanger, which in the thyroid gland transports iodide, and in the inner ear contributes to the conditioning of the ...
S. Dossena, S. Rodighiero, V. Vezzoli, C. Bazzini, C. Sironi, G. Meyer, J. Furst, M. Ritter, M. Garavaglia, L. Fugazzola, L. Persani, P. Zorowka, C. Storelli, P. Beck Peccoz, G. Botta, M. Paulmichl   +15 more
openaire   +3 more sources

Claudin expression during early postnatal development of the murine cochlea [PDF]

, 2018
Citation: Kudo, T., Wangemann, P., & Marcus, D. C. (2018). Claudin expression during early postnatal development of the murine cochlea. BMC Physiology, 18(1), 1.
Kudo, Takayuki, Marcus, Daniel C., Wangemann, Philine   +2 more
core   +3 more sources

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

PLoS ONE, 2014
BackgroundNonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4.
Jiandong Zhao, Yongyi Yuan, Shasha Huang, Bangqing Huang, Jing Cheng, Dongyang Kang, Guojian Wang, Dongyi Han, Pu Dai   +8 more
doaj   +1 more source

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Journal of Translational Medicine, 2011
Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu   +9 more
doaj   +1 more source