Results 41 to 50 of about 1,362 (148)

Many faces of monogenic diabetes

Journal of Diabetes Investigation, Volume 5, Issue 2, Page 121-133, March 2014., 2014
Monogenic diabetes represents a heterogeneous group of disorders resulting from defects in single genes. Defects are categorized primarily into two groups: disruption of beta cell function or a reduction in the number of beta cells. An accurate diagnosis is important because it may lead to a change in the treatment of affected subjects and influence ...
Valerie M Schwitzgebel
wiley   +1 more source

The Impact of Mutations in Wolframin on Psychiatric Disorders

Frontiers in Pediatrics, 2021
Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene WFS1, coding for the protein wolframin, cause Wolfram Syndrome and are associated
Saira Munshani, Eiman Y. Ibrahim, Eiman Y. Ibrahim, Ilaria Domenicano, Barbara E. Ehrlich   +4 more
doaj   +1 more source

Síndrome de Wolfram - Diagnóstico clínico de condição rara multissistêmica [PDF]

Revista Brasileira de Oftalmologia
Resumo A Síndrome de Wolfram consiste em uma patologia neurodegenerativa de caráter genético, também conhecida pela sigla DIDMOAD que traduz os principais achados dessa doença, Diabetes Insipidus, Diabetes Mellitus, Atrofia Óptica e Surdez. O artigo visa
Larissa Braga da Silva, Beatriz Iris dos Santos, Roberto Augusto Fernandes Machado   +2 more
doaj   +4 more sources

Modulation of Wolframin Expression in Human Placenta during Pregnancy: Comparison among Physiological and Pathological States

BioMed Research International, Volume 2014, Issue 1, 2014., 2014
The WFS1 gene, encoding a transmembrane glycoprotein of the endoplasmic reticulum called wolframin, is mutated in Wolfram syndrome, an autosomal recessive disorder defined by the association of diabetes mellitus, optic atrophy, and further organ abnormalities.
Angela Lucariello, Angelica Perna, Carmine Sellitto, Alfonso Baldi, Alessandro Iannaccone, Luigi Cobellis, Antonio De Luca, Maria De Falco, Heather F. Smith   +8 more
wiley   +1 more source

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology, Volume 14, Issue 2, Page 398-410, February 2026.
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem, Olivia Cunningham, Denise Williams, Joachim Wistuba, Liam McCarthy, Timothy G. Barrett, Renuka P. Dias   +6 more
wiley   +1 more source

Wolfram Syndrome in a Family with Variable Expression

Acta Medica, 2001
Wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy.
Abdurrahman Kadayifci, Yalcin Kepekci, Yavuz Coskun, Ying Huang   +3 more
doaj   +1 more source

Protocolo genético en Atención Primaria para enfermedades raras: el síndrome de Wolfram como prototipo

Atención Primaria, 2022
Resumen: Las enfermedades raras, pese a su baja frecuencia individual, afectan globalmente al 7% de la población, por lo que el profesional de Atención Primaria (AP) tendrá varios de estos pacientes bajo seguimiento.
Gema Esteban-Bueno, Lucas Ramón Díaz-Anadón, Antonio Rodríguez González, Miguel Navarro Cabrero, Aída María Berenguel Hernández   +4 more
doaj   +1 more source

Taste and smell function in Wolfram syndrome

Orphanet Journal of Rare Diseases, 2020
Background Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration.
Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey, M. Yanina Pepino   +5 more
doaj   +1 more source

Early Intervention and Lifelong Treatment with GLP1 Receptor Agonist Liraglutide in a Wolfram Syndrome Rat Model with an Emphasis on Visual Neurodegeneration, Sensorineural Hearing Loss and Diabetic Phenotype

Cells, 2021
Wolfram syndrome (WS), also known as a DIDMOAD (diabetes insipidus, early-onset diabetes mellitus, optic nerve atrophy and deafness) is a rare autosomal disorder caused by mutations in the Wolframin1 (WFS1) gene.
Toomas Jagomäe, Kadri Seppa, Riin Reimets, Marko Pastak, Mihkel Plaas, Miriam A. Hickey, Kaia Grete Kukker, Lieve Moons, Lies De Groef, Eero Vasar, Allen Kaasik, Anton Terasmaa, Mario Plaas   +12 more
doaj   +1 more source

Developmental Glaucoma with Central Diabetes Insipidus: A Case Report and Review of Literature

Delhi Journal of Ophthalmology, 2016
Association of developmental glaucoma with diabetes insipidus is a rare condition with only single citation as a part of DIDMOAD syndrome. However it has never been previously reported as an association with isolated diabetes insipidus.
Piyush Kumar R Ramavat, Taru Dewan, Shashi Vashisht, Harshika Chawla, Renu Singhania, Kanika Kapoor, Abhijeet Saha   +6 more
doaj   +1 more source