Results 21 to 30 of about 2,527,901 (173)

Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model [PDF]

The Journal of Clinical Investigation
Mutations in SLC26A4 are the second most common cause of hereditary hearing loss (HL) in many Asian countries, leading to DFNB4, a condition characterized by progressive HL and inner ear malformations.
Yi-Hsiu Tsai, Peng-Yu Wu, Yu-Chi Chuang, Chun-Ying Huang, Hiroki Takeda, Hiroshi Hibino, Chen-Chi Wu, Yen-Fu Cheng   +7 more
doaj   +2 more sources

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct

Journal of Endocrinological Investigation, 2004
Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred syndrome consists in sensorineural deafness, goiter and impaired thyroid hormone synthesis while in EVA thyroid function seems to be preserved.
Bogazzi F., Russo D., Raggi F., Ultimieri F., Berrettini S., Forli F., Grasso L., Ceccarelli C., Mariotti S., Pinchera A., Bartalena L., Martino E.   +11 more
openaire   +6 more sources

Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia) [PDF]

Вавиловский журнал генетики и селекции
Pathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute to the etiology of hearing loss in many populations of the world.
V. Yu. Danilchenko, M. V. Zytsar, E. A. Panina, K. E. Orishchenko, O. L. Posukh   +4 more
doaj   +2 more sources

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients

Hormone and Metabolic Research, 2017
AbstractCurrent study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population.
Sourav, Mukherjee, Manalee, Guha, Bidisha, Adhikary, Biswabandhu, Bankura, Pubali, Mitra, Subhankar, Chowdhury, Madhusudan, Das   +6 more
openaire   +3 more sources

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss. [PDF]

J Clin Lab Anal
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Katiraei SHF, Gholami M, Soosanabadi M, Entezam M, Dastgheib SA.   +4 more
europepmc   +2 more sources

Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene

Stem Cell Research, 2022
The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene.
SiJun Li, Chufeng He, Qi Feng, YiJiang Bai, Xianlin Liu, Jie Ling, Lingyun Mei, XueWen Wu, Yong Feng, Jian Song   +9 more
doaj   +3 more sources

Screening of SLC26A4 Gene Hotspots in 2673 Patients Associated with Sensorineural Hearing Loss in Northwestern China. [PDF]

J Int Adv Otol, 2022
Background: This study aimed to investigate the incidence of the hotspot mutations c.919-2A>G and c.2168A>G in SLC26A4 in the northwestern Chinese population.
Wang Y, Li Y, Xu B, Zhu Y, Chen X, Guo Y.   +5 more
europepmc   +2 more sources

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

JCRPE, 2022
INTRODUCTION: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC26A4 mutations in Chinese patients with CH and analyze the function of the
Chang-Run Zhang, Yuan-Ping Shi, Cao-Xu Zhang, Feng Sun, Wen-Jiao Zhu, Rui-Jia Zhang, Ya Fang, Qian-Yue Zhang, Chen-Yan Yan, Ying-Xia Ying, Shuang-Xia Zhao, Huai-Dong Song   +11 more
doaj   +2 more sources

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants [PDF]

Journal of Biomedical Science
Background Pathogenic sequence alterations in the SLC26A4 gene, which encodes the solute carrier SLC26A4/pendrin, lead to Pendred syndrome and non-syndromic autosomal recessive deafness type B4 (DFNB4), two of the most common forms of hearing loss ...
Florian Huber, Emanuele Bernardinelli, Bassam G. Haddad, Sophie Klaus, Lennart Weitgasser, Sebastian Roesch, Martin Jakab, Robert Konrat, Jan-Philipp Machtens, Dominique Eladari, Silvia Dossena   +10 more
doaj   +2 more sources

SLC26A4 regulates autophagy and activates the NLRP3 inflammasome to mediate pathological cardiac hypertrophy

Scientific Reports
Solute carrier family 26 member 4 (SLC26A4) plays an essential role in the progression of pathological cardiac hypertrophy. This study aimed to examine the involvement of SLC26A4 in cardiac hypertrophy by regulation of autophagy and activation of the NOD-
Li-qun Tang, Ling-ling Wang, Qi-feng Tang, Wei Wang   +3 more
doaj   +2 more sources