Results 61 to 70 of about 384 (136)

Signatures of selection detected from whole‐genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci

Animal Genetics, Volume 56, Issue 4, August 2025.
Abstract Early genetic studies have suggested that body size in rabbits can be considered a quantitative trait. Several rabbit breeds can be distinguished based on body size, including a few dwarf breeds differentiated by other morphological characteristics.
Samuele Bovo, Miguel Carneiro, Anisa Ribani, Matteo Bolner, Valeria Taurisano, Giuseppina Schiavo, Michele Schiavitto, Francesca Bertolini, Luca Fontanesi   +8 more
wiley   +1 more source

Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome

Egyptian Journal of Medical Human Genetics
Objective Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the diagnosis of ...
Marziyeh Hoseinzadeh, Mohammad Mehdi Jahani, Samane Nasrniya, Mohammad Amin Tabatabaiefar   +3 more
doaj   +1 more source

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

BMC Endocrine Disorders, 2021
Background Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao   +4 more
doaj   +1 more source

Recent advances in pancreatic β‐cell dysfunction in type 2 diabetes mellitus: Intracellular stress and dedifferentiation

Journal of Diabetes Investigation, Volume 17, Issue 8, Page 1254-1256, August 2026.
Nozomi Kido, Shun‐ichiro Asahara
wiley   +1 more source

Wolfram syndrome: new mutations, different phenotype. [PDF]

PLoS ONE, 2012
BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD".
Concetta Aloi, Alessandro Salina, Lorenzo Pasquali, Francesca Lugani, Katia Perri, Chiara Russo, Ramona Tallone, Gian Marco Ghiggeri, Renata Lorini, Giuseppe d'Annunzio   +9 more
doaj   +1 more source

Mitochondria‐Associated Membranes: A Key Point of Neurodegenerative Diseases

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
ABSTRACT Background Neurodegenerative diseases pose significant health challenges in the 21st century, with increasing morbidity and mortality, particularly among the elderly population. One of the key factors contributing to the pathogenesis of these diseases is the disrupted crosstalk between mitochondria and the endoplasmic reticulum.
Yiwei Zhang, Xiuqin Rao, Jiayi Wang, Hantian Liu, Qixian Wang, Xifeng Wang, Fuzhou Hua, Xilong Guan, Yue Lin   +8 more
wiley   +1 more source

Wolframin gene H611R polymorphism: No direct association with suicidal behavior but possible link to mood disorders [PDF]

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2009
Wolframin gene polymorphisms, including the H611R polymorphism, are reportedly associated with mood disorders and psychiatric hospitalization, but there is disagreement about the association of this specific variant with suicidality and impulsive traits. This study tested the association of the H611R polymorphism with mood disorders, suicidal behavior,
Gil, Zalsman, Mark J, Mann, Yung-Yu, Huang, Maria A, Oquendo, David A, Brent, Ainsley K, Burke, Steven P, Ellis, J John, Mann   +7 more
openaire   +2 more sources

A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Wolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, which results in ...
Nabiha Khan, Muhammad Usama Ashraf, Sadia Khan, Allahdad Khan, Humna Shahzad, Mudasira Habib, Aseel Kamal   +6 more
wiley   +1 more source

Neuvotteluja tyttöydestä : ”tyttötaide” sekä Katja Tukiaisen, Stiina Saariston ja Maria Wolframin kumoukselliset tyttöyden representaatiot [PDF]

, 2012
Tutkielmani aiheena on käsite ja ilmiö nimeltä tyttötaide sekä kolmen suomalaisen naistaiteilijan – Katja Tukiaisen (s.1969), Stiina Saariston (s.1979) ja Maria Wolframin (s.1961) – tyttöjen ja tyttöyden representaatiot.
Kähärä, Pauliina
core  

Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort

Diagnostics
Background: Wolfram syndrome (WS) is an ultrarare neuroendocrine disorder caused by pathogenic variants in WFS1, frequently leading to progressive neurological, autonomic, and cognitive impairment.
Gema Esteban-Bueno, Luisa-María Botella, Juan Luis Fernández-Martínez   +2 more
doaj   +1 more source