Results 41 to 50 of about 18,942 (235)

Hyperphagia in rare melanocortin-4 receptor pathway diseases: therapeutic options and assessing treatment response. [PDF]

Rev Endocr Metab Disord
Hyperphagia is a hallmark of both congenital and acquired rare melanocortin-4 receptor (MC4R) pathway diseases. Currently, the medical community has no standard treatment guidelines or approach to establishing treatment benefit.
Argente J, Clément K, Duis J, Farooqi IS, Kühnen P, Miller JL, Roth CL, van den Akker E.   +7 more
europepmc   +2 more sources

Hyperphagia change from baseline to the end of Open-Label Treatment Overall, High Dose and/or moderate to severe hyperphagia.

, 2019
Hyperphagia change from baseline to the end of Open-Label Treatment Overall, High Dose and/or moderate to severe hyperphagia.
Virginia Kimonis (7418696), Marie Wencel (7418702), Neil M. Cowen (7418705), Abhilasha Surampalli (7418699), June-Anne Gold (6413294)   +4 more
core   +1 more source

Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism. [PDF]

J Clin Med
Background/Objectives: Pseudohypoparathyroidism (PHP) is a group of genetic disorders characterized by end-organ resistance to multiple hormones, short stature, brachydactyly, subcutaneous ossifications, obesity, and developmental delays.
Tamaroff J, Shoemaker AH.
europepmc   +2 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Hyperphagia in male melanocortin 4 receptor deficient mice promotes growth independently of growth hormone

, 2016
Key points: Loss of function of the melanocortin 4 receptor (MC4R) results in hyperphagia, obesity and increased growth. Despite knowing that MC4Rs control food intake, we are yet to understand why defects in the function of the MC4R receptor contribute ...
Cowley, M., Tan, HY, Veldhuis, JD, Steyn, F. J., Cowley, M, Huang, L., Huang, L, Chen, C, Tan, H. Y., Steyn, FJ, Veldhuis, J. D., Chen, C.   +11 more
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source

Emerging Insights into the Role of BDNF on Health and Disease in Periphery

Biomolecules
Brain-derived neurotrophic factor (BDNF) is a growth factor that promotes the survival and growth of developing neurons. It also enhances circuit formation to synaptic transmission for mature neurons in the brain.
Mayuko Ichimura-Shimizu, Khuleshwari Kurrey, Misaki Miyata, Takuya Dezawa, Koichi Tsuneyama, Masami Kojima   +5 more
doaj   +1 more source

A kinetic study of the natural induction of liver steatosis in Greylag Landaise geese: the role of hyperphagia1

Animal, 2016
We have previously demonstrated that a sharp rise in feed intake (hyperphagia) and spontaneous liver steatosis could be experimentally induced in domestic Greylag geese by combining a short photoperiod and a sequence of feed restriction followed by ad ...
X. Fernandez, G. Guy, J.B. Laverze, C. Bonnefont, C. Knudsen, L. Fortun-Lamothe   +5 more
doaj   +1 more source

Mode of action of DCCR in hyperphagia.

, 2019
Mode of action of DCCR in hyperphagia.
Virginia Kimonis (7418696), Marie Wencel (7418702), Neil M. Cowen (7418705), Abhilasha Surampalli (7418699), June-Anne Gold (6413294)   +4 more
core   +1 more source