Results 131 to 140 of about 7,994 (153)

Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss. [PDF]

Sci Rep
Wang X, Chen J, Cai M, Zhang L, Tian C, Ge Y, Zhang G, Zhou Y.   +7 more
europepmc   +1 more source

Correction: Development of three-dimensional primary human myospheres as culture model of skeletal muscle cells for metabolic studies. [PDF]

Front Bioeng Biotechnol
Dalmao-Fernandez A, Aizenshtadt A, Bakke HG, Krauss S, Rustan AC, Thoresen GH, Kase ET.   +6 more
europepmc   +1 more source

Approach to the patient: genetics and management of congenital hypothyroidism.

J Clin Endocrinol Metab
Nguyen Quoc A, Kariyawasam D, Polak M, Carré A, Stoupa A.   +4 more
europepmc   +1 more source

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations

Laryngoscope, 2014
OBJECTIVES/HYPOTHESIS: Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations.
Kyung-A Lee, Jae Young Choi, Un-Kyung Kim   +2 more
exaly   +2 more sources

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

International Journal of Molecular Sciences, 2022
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations.
Valeriia Danilchenko, Marina Zytsar, Olga Posukh   +2 more
exaly   +2 more sources

Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs

International Journal of Molecular Sciences
Solute carrier family 26 member 4 (SLC26A4) is a member of the SLC26A transporter family and is expressed in various tissues, including the airway epithelium, kidney, thyroid, and tumors.
Dongun Lee, Jeong Hee Hong
exaly   +2 more sources

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model

International Journal of Molecular Sciences, 2021
Recessive variants of the SLC26A4 gene are globally a common cause of hearing impairment. In the past, cell lines and transgenic mice were widely used to investigate the pathogenicity associated with SLC26A4 variants.
Shu-wha Lin, Tien-Chen Liu, I-Shing Yu
exaly   +2 more sources

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

European Journal of Human Genetics, 2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital ...
Sébastien SCHMERBER, Didier Lacombe
exaly   +2 more sources

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Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

Diagnostics, 2021
Valeriia Danilchenko, Alexander Bondar, Igor Morozov   +2 more
exaly