Results 71 to 80 of about 514 (125)

Pathogenetics of the human SLC26 transporters

, 2005
Over the past decade, 11 human genes belonging to the solute linked carrier (SLC) 26 family of transporters, have been identified. The SLC26 proteins, which include SAT-1, DTDST, DRA/CLD, pendrin, prestin, PAT-1/CFEX and Tat-1, are structurally related ...
Dawson, P. A., Markovich, D.
core   +1 more source

The gene for pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

, 1997
PubMedID: 9070918Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital deafness. The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a ...
Demirhan O., Kabakkaya Y., Van Hauwe P., Van Camp G., Balemans W., Van Agtmael T., Coucke P.   +6 more
core   +1 more source

Efficient Endolymphatic Sac-Directed Gene Delivery Using AAV8BP2 and Posterior Semicircular Canal Injection. [PDF]

Int J Mol Sci
Kang M, Suh MJ, Gee HY, Chien WW, Jung J.   +4 more
europepmc   +1 more source

Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre. [PDF]

Clin Otolaryngol
Sakin I, Swords C, Ball J, Oakley-Hannibal E, Cunniffe H, Holden S, Bance M, Bewick J.   +7 more
europepmc   +1 more source

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population. [PDF]

Arch Gynecol Obstet
Lu J, Chen J, Mei L, Zhao J, Wang C, Ma C, Luan S, Wan Y.   +7 more
europepmc   +1 more source

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia). [PDF]

Genes (Basel), 2023
Danilchenko VY, Zytsar MV, Maslova EA, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

Pendrin in the pathogenesisof congenital hypothyroidism

, 2009
Pendrin is an anion transporter that is expressed in several organs. In the thyroid gland, pendrin is localized at the apical pole of thyrocytes and it is responsible for the iodide efflux from thyrocytes into the colloid in the follicular lumen where ...
Banghová, Karolína
core  

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families. [PDF]

Hum Genomics
Idyahia A, Redouane S, Chentoufi FE, Charoute H, El Hamouchi A, Benrahma H, Barakat A.   +6 more
europepmc   +1 more source

Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4^-/- mouse. [PDF]

BMC Med Genomics, 2023
Koh JY, Affortit C, Ranum PT, West C, Walls WD, Yoshimura H, Shao JQ, Mostaert B, Smith RJH.   +8 more
europepmc   +1 more source

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants. [PDF]

Int J Mol Med
Bernardinelli E, Jamontas R, Matulevičius A, Huber F, Nasser H, Klaus S, Zhu H, Gao J, Dossena S.   +8 more
europepmc   +1 more source