Results 61 to 70 of about 2,034 (157)

Research data supporting ''Defining puberty and spectrum of hypogonadism in Alström Syndrome'' [PDF]

The data in the supplementary file supporting manuscript tilted,''Defining puberty and spectrum of hypogonadism in Alström Syndrome'' consists of 2 supplementary figures and 2 supplementary ...
Metabolism and Systems Science, Ali, Sadaf, Da Silva Xavier, Gaby; id_orcid   +2 more
core   +4 more sources

Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants

Stem Cell Research
We report on the generation of the human iPSC line (ALMS1-STBG-1) from a patient with Alström syndrome with compound heterozygote pathogenic variants in ALMS1: c.[2822T>A];[4714_4715dup], p.[(Leu941*)];[(Ser1573Thrfs*25)].
Samira Secula, Nejla Erkilic, Cathy Obringer, Catherine Jaeger, Anne Sophie Leuvrey, Jean Muller, Vasiliki Kalatzis, Hélène Dollfus   +7 more
doaj   +1 more source

Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme

Frontiers in Endocrinology, 2022
The primary cilium is a narrow organelle located at the surface of the cell in contact with the extracellular environment. Once underappreciated, now is thought to efficiently sense external environmental cues and mediate cell-to-cell communication ...
Marta Pablos, Elena Casanueva-Álvarez, Carlos M. González-Casimiro, Beatriz Merino, Germán Perdomo, Irene Cózar-Castellano, Irene Cózar-Castellano, Irene Cózar-Castellano   +7 more
doaj   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

Early diagnosis of Bardet-Biedl syndrome associated with obesity

Ожирение и метаболизм, 2008
One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.

doaj   +1 more source

Epidemiology of acquired hypothalamic obesity following traumatic brain injury and nonspecific hypothalamic microinjury: A nationwide German claims data analysis

Journal of Neuroendocrinology, Volume 38, Issue 1, January 2026.
Abstract Acquired hypothalamic obesity (aHO) is characterized by rapid and persistent weight gain resulting from structural or functional damage to the hypothalamus, typically accompanied by neuroendocrine dysfunction. While aHO is well described in the context of hypothalamic or suprasellar tumors, particularly craniopharyngioma, little is known about
Julian Witte, Nicolas Touchot, Manuel Batram, Jana Diekmannshemke, Mathias Flume, Hermann L. Müller   +5 more
wiley   +1 more source

Association Between Physical Activity and Indicators of Overweight/Obesity and Metabolically Unhealthy Obesity Risk in Children and Adolescents: A Systematic Review of Prospective Epidemiological Studies and Randomized Controlled Trials in Western Countries

Obesity Reviews, Volume 27, Issue 1, Page 1-28, January 2026.
ABSTRACT This systematic review examined the etiologic association between physical activity (PA) and indicators of childhood overweight/obesity (OV/OB) and metabolically unhealthy obesity (MUO) risk. Original peer‐reviewed English reports published between January 01, 2013, and June 30, 2024, were retrieved from MEDLINE and Scopus.
Michael Georgoulis, Ismini Grapsa, Giannis Arnaoutis, Vasiliki Bountziouka, Alexandra Karachaliou, Georgios Saltaouras, Eirini Bathrellou, Mary Yannakoulia, George Dimitrakopoulos, Meropi D. Kontogianni   +9 more
wiley   +1 more source

Novel Alu retrotransposon insertion leading to Alström syndrome. [PDF]

, 2012
Alström syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal ...
Taşkesen, Mustafa, Naggert, Jürgen K, Collin, Gayle B, Evsikov, Alexei V, Güzel, Ayşegül, Özgül, R Köksal, Marshall, Jan D   +6 more
core  

MORFAN syndrome: A rarity but a reality!

Indian Journal of Dermatology, 2019
Acanthosis nigricans (AN) describes clinically hyperpigmented skin, which most commonly affects the flexural areas such as axilla, groin and neck.
Gourab Roy, Sumit Sen, Shreya Poddar
doaj   +1 more source

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease—A Case Report

Clinical Case Reports, Volume 13, Issue 12, December 2025.
MRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Sushrut Ingawale, Ishaan Shinde, Sai Teja Rachakonda, Ashmita Pandey, Ayushi Shah   +4 more
wiley   +1 more source