Results 101 to 110 of about 2,252,434 (232)

Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology

Clinical Genetics, Volume 106, Issue 1, Page 102-108, July 2024.
Putative phenotypic impact of FOXL2 variants. The different sub‐units of the preproprotein are indicated: the peptide signal (gray); the poly‐glycine region (green); the Forkhead region (yellow); the two conserved poly‐alanine regions (red) and the poly‐proline region (dark blue).
Pénélope Jordan, Camille Verebi, Bérénice Hervé, Sandrine Perol, Zeina Chakhtoura, Carine Courtillot, Anne Bachelot, Daphné Karila, Céline Renard, Virginie Grouthier, Stanislas Mulot de la Croix, Valérie Bernard, Corinne Fouveaut, Aude Brac de la Perrière, Sophie Jonard‐Catteau, Philippe Touraine, Geneviève Plu‐Bureau, Jean Michel Dupont, Sophie Christin‐Maitre, Thierry Bienvenu   +19 more
wiley   +1 more source

Mechanism of anion exchange and small-molecule inhibition of pendrin

Nature Communications
Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3 −) exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the kidney, lung, and cochlea. Pendrin also exports iodide (I−) in the thyroid gland. Pendrin
Lie Wang, Anthony Hoang, Eva Gil-Iturbe, Arthur Laganowsky, Matthias Quick, Ming Zhou   +5 more
doaj   +1 more source

The gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion [PDF]

, 2016
Citation: Miyazaki, H., Wangemann, P., & Marcus, D. C. (2016). The gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion. BMC Physiology, 17(1), 1.
Marcus, Daniel C., Miyazaki, Hiromitsu, Wangemann, Antje Philine   +2 more
core   +1 more source

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation

Laryngoscope Investigative Otolaryngology, Volume 9, Issue 3, June 2024.
Diagnostic yield for Hispanic and Latino with severe to profound sensorineural hearing loss undergoing comprehensive genomic testing. Abstract Objective Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking.
Monica Rodriguez‐Valero, Adrian Pastolero, Shelby Redfield, Alma Medrano, Melania Abreu‐Gonzalez, Jose Francisco Gallardo‐Ollervides, Juan Carlos Cisneros Lesser, Maria Fernanda Hinojosa Valencia, Dennis Poe, Eliot Shearer   +9 more
wiley   +1 more source

Synopsis of the 48th Annual Meeting of the Lake Cumberland Biological Transport Group and the Second Biannual Meeting of the Pendrin Consortium

Cellular Physiology and Biochemistry, 2013
Ion transporters are the molecular basis for ion homeostasis of the cell and the whole organism. The anion exchanger pendrin is only one of a number of examples where a complete or partial loss of function and/or deregulation of expression of ion ...
Silvia Dossena, Charity Nofziger, Rossana Morabito, Norma C. Adragna, Markus Paulmichl   +4 more
doaj   +1 more source

A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss [PDF]

, 2018
The autosomal recessive non-syndromic hearing loss (ARNSHL) can be associated with variants in solute carrier family 26, member 4 (SLC26A4) gene and is the second most common cause of ARNSHL worldwide.
Ahmadi, R, Azadegan-Dehkordi, F, Bahrami, T, Farrokhi, E, Hashemzadeh-Chaleshtori, mahmoud, Tabatabaiefar, MA, Yazdanpanahi, N   +6 more
core  

Genetic hearing loss: a study of 228 Brazilian patients [PDF]

, 2000
We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case.
Brunoni, Decio, Longhitano, Silvia Bragagnolo   +1 more
core   +3 more sources

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants

Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.
We detected and analysed 362 Chinese non‐syndromic HL patients, of whom 102 patients were assigned a molecular diagnosis with 52 different variants in 22 deafness genes. Twenty of the variants in 15 deafness genes were novel. Our study expanded the spectrum of deafness gene variation.
Panpan Ma, Bingbo Zhou, Qichao Kang, Xue Chen, Xinyuan Tian, Ling Hui, Shengju Hao, Huiyan Wu, Chuan Zhang   +8 more
wiley   +1 more source

slc26a12—A novel member of the slc26 family, is located in tandem with slc26a2 in coelacanths, amphibians, reptiles, and birds

Physiological Reports, Volume 12, Issue 11, June 2024.
Abstract Solute carrier family 26 (Slc26) is a family of anion exchangers with 11 members in mammals (named Slc26a1‐a11). Here, we identified a novel member of the slc26 family, slc26a12, located in tandem with slc26a2 in the genomes of several vertebrate lineages.
Ayumi Nagashima, Kota Torii, Chihiro Ota, Akira Kato   +3 more
wiley   +1 more source

Pendred syndrome in Tunisia

European Annals of Otorhinolaryngology, Head and Neck Diseases, 2010
We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome.Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests.
Charfeddine, I., Mnejja, M., Hammami, B., Chakroun, A., Masmoudi, S., Ayadi, H., Ghorbel, A.   +6 more
openaire   +2 more sources