Results 101 to 110 of about 20,403 (220)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda   +10 more
wiley   +1 more source

Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl syndrome

open access: yesFrontiers in Endocrinology
Bardet-Biedl syndrome (BBS) is a rare genetic condition that results from mutations in a variety of genes crucial for ciliary transport. Consequently, patients with BBS present with a wide array of clinical signs and symptoms that include multiple organ ...
Menjin Kuk   +2 more
doaj   +1 more source

One Week Exposure to a Somatostatin Receptor 2 Antagonist (SSTR2a) Enhances Glucagon Counterregulation to Insulin‐Induced Hypoglycaemia and Does Not Worsen Glycemia in a Male Rat Model of Insulin‐Requiring Type 2 Diabetes

open access: yesDiabetes, Obesity and Metabolism, Volume 28, Issue 9, Page 8208-8218, September 2026.
ABSTRACT Introduction Administration of a somatostatin receptor 2 antagonist (SSTR2a) increases glucagon responsiveness to hypoglycaemia in insulin‐treated type 2 diabetes (T2D), but the durability of this effect and the impact of repeated SSTR2a dosing on overall glycaemia in T2D are unclear.
Ninoschka C. D'Souza   +7 more
wiley   +1 more source

Prader-Willi and Angelman Syndromes: Mechanisms and Management

open access: yesThe Application of Clinical Genetics, 2023
Van K Ma,1,2 Rong Mao,3,4 Jessica N Toth,3 Makenzie L Fulmer,3,4 Alena S Egense,1,2 Suma P Shankar1,2,5 1Department of Pediatrics, University of California Davis, Sacramento, CA, USA; 2MIND Institute, University of California Davis, Sacramento, CA, USA ...
Ma VK   +5 more
doaj  

Pharmacokinetics of Orally Administered Clonidine in Dogs

open access: yesJournal of Veterinary Pharmacology and Therapeutics, Volume 49, Issue 5, Page 450-456, September 2026.
ABSTRACT Clonidine is an α‐2 agonist shown to be both well tolerated and useful in the treatment of canine fear‐based disorders, although it is perceived to have a short duration of action. Clonidine is available in regular release and extended‐release formulations, but canine pharmacokinetic (PK) and pharmacodynamic (PD) data on any clonidine ...
Kevin Pflaum   +3 more
wiley   +1 more source

Hypothalamic ghrelin signalling mediates olanzapine-induced hyperphagia and weight gain in female rats

open access: yes, 2014
Excessive weight gain is a major metabolic side effect of second-generation antipsychotics (SGAs) in the treatment of schizophrenia. Ghrelin is an orexigenic hormone secreted mainly from the stomach, which can induce weight gain and hyperphagia through ...
Meng He (20118228)   +5 more
core   +1 more source

Efficacy and Safety of Bariatric Surgery in Acquired Hypothalamic Obesity: A Systematic Review and Individual Patient Data Meta‐Analysis

open access: yesObesity Reviews, Volume 27, Issue 9, September 2026.
ABSTRACT Objective This work aimed to investigate the efficacy and safety of Roux‐en‐Y gastric bypass (RYGB) and sleeve gastrectomy (SG) in adults with acquired hypothalamic obesity (HO). Design Systematic review and meta‐analysis. Methods Publications reporting relevant outcomes in patients with HO before and after RYGB or SG were identified through a
Johannes Fessler   +3 more
wiley   +1 more source

Assessing the impact of hyperphagia on the behaviour of children with Prader-Willi Syndrome [PDF]

open access: yes
Background Prader-Willi Syndrome (PWS) is a complex genetic syndrome associated with hyperphagia and behavioural problems. Recent research suggested a link between hyperphagia and behavioural and emotional problems in PWS such as anger and anxiety ...
Haselip, L.
core   +3 more sources

Transcriptional Changes in Adipose Tissue Before and After the Onset of Hyperphagia in the Zucker (fa/fa) Rat [PDF]

open access: yes, 2005
The Zucker fatty (fa/fa) rat inherits a defective leptin receptor with impaired leptin signaling. Fatties grow at the same rate as their littermates for the first 22 days of age, and then suddenly begin to grow at a much higher rate.
Brown, Mary D.
core  

The treatment of hyperphagia and obesity in Prader-Willi Syndrome [PDF]

open access: yes
Introduction: Prader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder, in which the central clinical characteristics are hyperphagia and obesity.
Jastrzębska, Ilona   +6 more
core  

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