Results 71 to 80 of about 7,226 (202)

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. [PDF]

, 2016
CONTEXT: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS).
Albanese, Assunta, Almaghamsi, Mohammad, Alyaarubi, Saif, Anderson, Carl A, Aycan, Zehra, Babiker, Amir, Bober, Ece, Brugger, Kim, Cangul, Hakan, Chatterjee, V Krishna K, Dattani, Mehul, Davies, Justin H, Deeb, Asma, Gregory, John W, Habeb, Abdelhadi M, Irwin, Rachael, Lyons, Greta, Maher, Eamonn R, Martin, Howard, Massoud, Ahmed F, Murray, Philip G, Nathwani, Nisha, Nicholas, Adeline K, Padidela, Raja, Park, Soo-Mi, Pease-Gevers, Evelien, Peters, Catherine, Puthi, Vijith, Saglam, Halil, Schoenmakers, Erik, Schoenmakers, Nadia, Serra, Eva G, Shenoy, Savitha, Thankamony, Ajay, Tharian, Kavitha, Ullah, Irfan, Willemsen, Ruben   +36 more
core   +7 more sources

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  

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein [PDF]

European Journal of Endocrinology, 2007
Objective: Pendred syndrome (PS) is characterized by the association of sensorineural hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is caused by mutations in the SLC26A4 gene. The encoded transmembrane protein, called pendrin, has been found to be able to transport chloride and other anions.
L. Fugazzola, L. Cirello, S. Dossena, S. Rodighiero, M. Muzza, P. Castorina, F. Lalatta, U. Ambrosetti, P. Beck-Peccoz, G. Bottà, M. Paulmichl   +10 more
openaire   +3 more sources

Abstract Supplement

Pulmonary Medicine, Volume 2026, Issue 1, 2026.
 
Marzia Folegani, Semonti Nandi
wiley   +1 more source

Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]

, 2015
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina, de Groot, John CMJ, Frijns, Johan HM, Huisman, Margriet A, Locher, Heiko, van Iperen, Liesbeth   +5 more
core   +2 more sources

Single‐Cell Transcriptomics Reveals ITGA2‐Mediated Metabolic Reprogramming and Immune Crosstalk in Pediatric Thyroid Carcinogenesis

Advanced Science, Volume 12, Issue 45, December 4, 2025.
This study unveils ITGA2⁺ tumor cells as key drivers of pediatric thyroid cancer aggressiveness. These cells orchestrate dual oncogenic pathways: GLUT1‐mediated glycolytic reprogramming and M2 macrophage polarization. This metabolic‐immunological crosstalk promotes tumor progression and metastasis.
Zhi‐jun Zhan, Ning Li, Yan Sun, Lu Chen, Jun‐da Yin, Yun‐han Shan, Jia‐xing Zeng, Zhe‐cheng Li, Hai‐long Tan, Neng Tang, Shi Chang, Peng Huang   +11 more
wiley   +1 more source

Elevated SLC26A4 gene promoter methylation is associated with the risk of presbycusis in men

Molecular Medicine Reports, 2017
Presbycusis affects approximately one-third of people over the age of 65 and is a worldwide health problem. In the current study, whether the methylation level of solute carrier family 26 member 4 (SLC26A4) predicted an increased risk of presbycusis was investigated.
Jin, Xu, Jiachen, Zheng, Wanjing, Shen, Lili, Ma, Ming, Zhao, Xubo, Wang, Jiyuan, Tang, Jihong, Yan, Zhenhua, Wu, Zuquan, Zou, Shizhong, Bu, Yang, Xi   +11 more
openaire   +3 more sources

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

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 sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated ...
Albert, Sébastien, Blons, Hélène, Jonard, Laurence, Feldmann, Delphine, Chauvin, Pierre, Loundon, Nathalie, Sergent-Allaoui, Annie, Houang, Muriel, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise, Tran Ba Huy, Patrice, Lacombe, Didier, Duriez, Françoise, Francannet, Christine, Bitoun, Pierre, Petit, Christine, Garabédian, Eréa-Noël, Couderc, Rémy, Marlin, Sandrine, Denoyelle, Françoise   +29 more
openaire   +3 more sources

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source