Results 21 to 30 of about 7,226 (202)

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene. [PDF]

Pediatr Rep, 2021
Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism.
Calcaterra V, Lamberti R, Viggiano C, Gatto S, Spaccini L, Lista G, Zuccotti G.   +6 more
europepmc   +6 more sources

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct [PDF]

Molecular Medicine
Background The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and
Emanuele Bernardinelli, Raffaella Liuni, Rapolas Jamontas, Paola Tesolin, Anna Morgan, Giorgia Girotto, Sebastian Roesch, Silvia Dossena   +7 more
doaj   +2 more sources

SLC26A Gene Family Participate in pH Regulation during Enamel Maturation. [PDF]

, 2015
The bicarbonate transport activities of Slc26a1, Slc26a6 and Slc26a7 are essential to physiological processes in multiple organs. Although mutations of Slc26a1, Slc26a6 and Slc26a7 have not been linked to any human diseases, disruption of Slc26a1 ...
Kurtz, Ira, Lacruz, Rodrigo S, Lei, Yuejuan, Paine, Michael L, Snead, Malcolm L, Soleimani, Manoocher, Wen, Xin, White, Shane N, Yin, Kaifeng   +8 more
core   +13 more sources

Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis

Frontiers in Pediatrics, 2023
The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-).
Kang Zhu, Yingkang Jin
doaj   +1 more source

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis. [PDF]

Dev Neurobiol
ABSTRACT The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system.
van Beelen ESA, van der Valk WH, de Groot JCMJ, van Benthem PPG, Locher H.   +4 more
europepmc   +2 more sources

Downregulation of GJB2 and SLC26A4 Genes Induced by Noise Exposure is Associated with Cochlear Damage [PDF]

Molecular Biology Reports, 2021
Abstract Noise can change the pattern of gene expression inducing sensorineural hearing impairment. There is no investigation on effects of noise frequency on the expression of GJB2 and SLC26A4 genes involved in congenital hearing impairment in cochlear tissue.
Amir Abbasi Garmaroudi, Monireh Khadem, Maryam Mirzaei Hotkani, Sajjad Mozaffari, Mohammad Reza Monazzam Esmaeil poor, Elham Kazemirad   +5 more
openaire   +2 more sources

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment [PDF]

European Journal of Pediatrics, 2008
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss.
Kimia, Kahrizi, Marzieh, Mohseni, Carla, Nishimura, Niloofar, Bazazzadegan, Stephanie M, Fischer, Atefeh, Dehghani, Morteza, Sayfati, Maryam, Taghdiri, Payman, Jamali, Richard J H, Smith, Fereydoun, Azizi, Hossein, Najmabadi   +11 more
openaire   +2 more sources

Investigation of GJB2 and SLC26A4 genes related to pendred syndrome genetic deafness patients

Cellular, Molecular and Biomedical Reports, 2023
Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process. Mutations in GJB2 and SLC26A4 genes are one of the most important causes of deafness in the world, which causes syndromic and non ...
Al-Zaidi, Haider Majid Haider, Mousavinasab, Fatemehsadat, Radseresht, Nika, Mirzaei, Alireza, Moradi, Yasaman, Mahmoudifar, Mohammad   +5 more
openaire   +2 more sources

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies [PDF]

, 2015
Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities.
Aimoni, C, Busi, M, Calzolari, F, Castiglione, Alessandro, Granieri, E, Martini, Alessandro, Minazzi, F, Rosignoli, M, Trevisi, Patrizia   +8 more
core   +9 more sources

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source