Results 61 to 70 of about 208,465 (197)

TTF2 Gene Mutation in Neonates with Congenital Hypothyroidism Caused by Thyroid Dysgenesis

مجله دانشکده پزشکی اصفهان, 2012
Background: Thyroid transcription factor 2 (TTF2) or forkhead box E1 (FOXE1) is a polyalanine domain protein with an important role in the morphogenesis and development of thyroid gland.
Frouzande Mahjoubi, Mahin Hashemipour, Ramin Iranpour, Massoud Amini, Silva Hovsepian   +4 more
doaj  

Dysphagia and dyspnea by lingual thyroid mass: An appropriate approach

Egyptian Journal of Ear, Nose, Throat and Allied Sciences, 2015
Lingual thyroid is a rare embryological anomaly originated from the thyroid gland failure that descends from the foramen cecum to its normal eutopic pre-laryngeal site.
Samad Ghiasi, Gholamreza Bayazian, Arezoo Khansarinia   +2 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

Transcriptome, methylome and genomic variations analysis of ectopic thyroid glands. [PDF]

PLoS ONE, 2010
BACKGROUND: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is predominantly a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue.
Rasha Abu-Khudir, Jean Paquette, Anne Lefort, Frederick Libert, Jean-Pierre Chanoine, Gilbert Vassart, Johnny Deladoëy   +6 more
doaj   +1 more source

Exploring the Potential of Calebin‐A in Targeting Obesity‐Related Genes and Pathways

Journal of Cellular and Molecular Medicine, Volume 30, Issue 11, June 2026.
ABSTRACT Obesity is a global health crisis affecting millions, associated with metabolic disorders such as type 2 diabetes and cardiovascular disease. Calebin‐A, a bioactive compound derived from Curcuma species, has shown promise in managing obesity and its complications.
Ali Mahmoudi, Ali Saeedi‐Boroujeni, Sercan Karav, Prashant Kesharwani, Amirhossein Sahebkar   +4 more
wiley   +1 more source

The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies

Frontiers in Endocrinology, 2023
IntroductionFOXE1 is required for thyroid function and its homozygous mutations cause a rare syndromic form of congenital hypothyroidism (CH). FOXE1 has a polymorphic polyalanine tract whose involvement in thyroid pathology is controversial.
Elisa Stellaria Grassi, Giuditta Rurale, Tiziana de Filippis, Davide Gentilini, Davide Gentilini, Erika Carbone, Francesca Coscia, Sarah Uraghi, Martyn Bullock, Roderick J. Clifton-Bligh, Roderick J. Clifton-Bligh, Abhinav K. Gupta, Luca Persani, Luca Persani   +13 more
doaj   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Different Forms of Hypothyroidism in Infants with Maternal Graves' Disease

Journal of the ASEAN Federation of Endocrine Societies
Infants of mothers with Graves’ disease (GD) may develop central hypothyroidism (CH) due to exposure of the foetal hypothalamic-pituitary-thyroid axis to higher-than-normal thyroid hormone concentrations, primary hypothyroidism (PH) due to ...
Alexis Anand Dass Lordudass, Jeanne Sze-Lyn Wong, Nalini Selveindran, Janet Yeow Hua Hong   +3 more
doaj   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, Volume 7, Issue 2, Page 242-246, May 2026.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology

The FASEB Journal, Volume 40, Issue 8, 30 April 2026.
Two proposed sequence of events for thyroxine formation in patients expressing mutant thyroglobulin. (A) (1) TSH stimulation drives expression of misfolded TG. (2) Unremitting ER stress. (3) Stress‐induced cell death. (4) Dead thyrocytes release their contents. (5) The contents become iodinated. (6) Forming thyroxine.
Crystal Young, Peter Arvan
wiley   +1 more source