Results 51 to 60 of about 7,994 (153)

Sgk1 Sensitive Pendrin Expression in Murine Platelets

Cellular Physiology and Biochemistry, 2013
Background: The anion exchanger pendrin (SLC26A4) is required for proper development of the inner ear, and contributes to iodide organification in thyroid glands as well as anion transport in various epithelia, such as airways and renal tubules.
Lisann Pelzl, Hajar Fakhri, Anja T. Umbach, Meinrad Gawaz, Markus Paulmichl, Florian Lang   +5 more
doaj   +1 more source

Advances in Polyethyleneimine‐Derived Nanoformulations

Small Science, Volume 6, Issue 7, July 2026.
This article illustrates the cytotoxic effects of polyethyleneimine (PEI) on cell membranes and mitochondria, the strategies employed to mitigate PEI‐associated toxicity through chemical modification, PEGylation, and structural optimization, and the major types of PEI‐based formulations developed for the delivery of therapeutic drugs, nucleic acids ...
Mohamed S. Attia, Mariusz Skwarczynski, Waleed M. Hussein   +2 more
wiley   +1 more source

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism [PDF]

, 2020
Objective: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin.
Chunyun Fu, Arch Endocrinol, Yun Chen, Bobo Xie, Xuyun Hu, Chuan Li, Shujie Zhang, Rongyu Chen, Jingsi Luo, Metab, Jin Wang, Shaoke Chen, Yiping Shen, Jiasun Su, Xin Fan, Haiyang Zheng   +15 more
core   +2 more sources

Internal Interaction Changes Within The Mutation Of Slc26A4 Stas Domain

, 2018
Pendrin (SLC26A4) is a protein associated with the auditory system. Pendred syndrome (PDS) and DFNB4 are typical auditory disorders caused by mutations in the SLC26A4 STAS domain.
Kim, Jae In, Lee, Myeongsang, Na, Sungsoo, Chang, Hyunjoon   +3 more
core   +1 more source

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of Translational Medicine, 2008
Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin, Yuan Huijun, Kang Dongyang, Yu Fei, Zhu Xiuhui, Huang Deliang, Yuan Yongyi, Dai Pu, Han Dongyi, Wong Lee-Jun C   +9 more
doaj   +1 more source

TG Nonsense Variant in Dwarf Rottweiler Dogs

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT We identified a dwarfism syndrome in six Rottweiler dogs characterized by reduced height and body weight; limb deformities, shortening of the tail and abnormally thick skin in puppies; developmental delays, pain and non‐goitrous hypothyroidism. Histological examination of the thyroid gland revealed severe chronic diffuse bilateral atrophy with
Marie Abitbol, Michaela Drögemüller, Cleo Schwarz, Etienne Furthner, Eva Dervas, Felicitas S. Boretti, Nadja S. Sieber‐Ruckstuhl, Caroline Dufaure de Citres, Chloé Pauchard, Vidhya Jagannathan, Tosso Leeb   +10 more
wiley   +1 more source

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) [PDF]

, 2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as “DFNB4,” a large percentage of ...
Vidarsson, Hilmar, Rosengren, Sally S., Enerbäck, Sven, Enerbäck, Sven,, Yang, Tao, Smith, Richard J.H., Rodrigo-Blomqvist, Sandra, Vidarsson, Hilmar,, Rodrigo Blomqvist, Sandra,, Smith, Richard J H, Rosengren, Sally S   +10 more
core   +1 more source

SLC26A4 mutations are associated with a specific inner ear malformation

, 2007
Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in
FİTOZ, ÖMER SUAT, Tekin, Mustafa, Fitoz, Suat, Sennaroğlu, Levent, Koç, Yasemin, İncesulu, Armağan, Cengiz, Filiz Başak   +6 more
core   +1 more source

Estrogen receptor β regulates sex‐dependent airway mechanics and inflammation in a murine model of allergen exposure

Physiological Reports, Volume 14, Issue 11, June 2026.
Abstract Sex differences in asthma severity have been reported; however, the specific contribution of estrogen receptor β (ERβ) remains incompletely defined. We tested the hypothesis that ERβ modulates sex‐specific physiological responses to chronic allergen exposure using C57BL/6J wild‐type (WT) and ERβ‐deficient (Esr2−/−) male and female mice ...
Carolyn Damilola Ekpruke, Dustin Rousselle, Maksat Babayev, Omar Borges‐Sosa, Rachel Alford, Lyidia Dinwiddie, David Michael Merritt, Christopher Michael Hemmerich, Douglas B. Rusch, Sarah Bradley, Matthew Louis Retzner, Erik Parker, Patricia Silveyra   +12 more
wiley   +1 more source

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

BMC Medical Genetics, 2019
Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith   +8 more
doaj   +1 more source