Results 71 to 80 of about 5,735 (191)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Afamelanotide improves quality of life and light tolerance in Austrian erythropoietic protoporphyria patients

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background Erythropoietic protoporphyria (EPP) is a rare genetic disorder characterized by severe phototoxic reactions that occur within minutes of light exposure. In clinical studies, afamelanotide has been shown to prolong pain‐free sun exposure, improve quality of life, and reduce the frequency and severity of phototoxic reactions ...
Magdalena Seidl‐Philipp, Hanna Schratter, Johanna Auer, Gerold Schwantzer, Maximilian Lammer, Philipp Hinteregger, Ines Vergeiner, Robert Gruber, Peter Wolf, Angelika Hofer   +9 more
wiley   +1 more source

Hypercortisolism: Causes, Consequences and Clinical Significance – A Review of Pathophysiology

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Hypercortisolism or Cushing syndrome is a heterogeneous clinical spectrum caused by chronic glucocorticoid excess, ranging from exogenous Cushing syndrome to rare endogenous aetiologies and the increasingly recognised entity of mild autonomous cortisol secretion (MACS). Physiological cortisol production is tightly regulated by the hypothalamic–
Mohamed Eldib, Francisco Emilio Fierro, Maria Ortega Abad, Ricardo Correa   +3 more
wiley   +1 more source

Expert Consensus on the Management of Hyperpigmentation Disorders in India: A Modified Delphi Study by the Pigmentary Disorders Society

International Journal of Dermatology, EarlyView.
Delphi‐based expert consensus for diagnosis and management of common hyperpigmentation disorders in Indian dermatology practice, integrating evidence review, iterative voting, and consensus‐driven recommendations. ABSTRACT Hyperpigmentation disorders are prevalent in individuals with skin of color and are associated with considerable psychosocial ...
Rashmi Sarkar, Sunil Dogra, Surabhi Sinha, Keshavamurthy Vinay, Indrashis Podder, Anupam Das, Bhavesh Swarnkar, B. S. Chandrashekar, Hitaishi Mehta, Madhuri Agarwal, Muthu Sendhil Kumaran, Sonali Langar, Seemal R. Desai   +12 more
wiley   +1 more source

Development of a genetically encoded melanocortin sensor for high sensitivity in vivo imaging

Molecular Metabolism
Objective: The central melanocortin system, composed of peptides derived from pro-opiomelanocortin (POMC) such as the melanocyte-stimulating hormones (α-, β-, γ-MSH) and melanocortin 4 receptors (MC4R), along with the agouti-related protein (AgRP), plays
Yoon Namkung, Tal Slutzki, Joao Pedroso, Xiaohong Liu, Paul V. Sabatini, Maia V. Kokoeva, Stéphane A. Laporte   +6 more
doaj   +1 more source

Stem Cells From Dental Pulp, Periodontal Tissues, and Other Oral Sources: Biological Concepts and Regenerative Potential

Journal of Periodontal Research, EarlyView.
A graphical abstract recapping the different sources of dental, periodontal, and other oral‐derived mesenchymal stromal cells (MSCs) and their regenerative mechanisms and potentials. The review's article findings bridge fundamental biological science with translational advances, highlighting the significance of MSCs in craniofacial regenerative ...
Karim M. Fawzy El‐Sayed, Sara El Moshy, Israa Ahmed Radwan, Dina Rady, Aiah A. El‐Rashidy, Marwa M. S. Abbass, Christof E. Dörfer   +6 more
wiley   +1 more source

Ribosomal S6 kinase 2-forkhead box protein O4 signaling pathway plays an essential role in melanogenesis

Scientific Reports
Although previous studies have examined the signaling pathway involved in melanogenesis through which ultraviolet (UV) or α-melanocyte-stimulating hormones (α-MSH) stimuli act as key inducers to produce melanin at the stratum basal layer of the epidermis,
Dohyun Jeung, Ga-Eun Lee, Weidong Chen, Jiin Byun, Soo-Bin Nam, You-Min Park, Hye Suk Lee, Han Chang Kang, Joo Young Lee, Kwang Dong Kim, Young-Soo Hong, Cheol-Jung Lee, Dae Joon Kim, Yong-Yeon Cho   +13 more
doaj   +1 more source

Desacetyl-α-melanocyte stimulating hormone and α-melanocyte stimulating hormone are required to regulate energy balance

Molecular Metabolism, 2018
OBJECTIVE: Regulation of energy balance depends on pro-opiomelanocortin (POMC)-derived peptides and melanocortin-4 receptor (MC4R). Alpha-melanocyte stimulating hormone (α-MSH) is the predicted natural POMC-derived peptide that regulates energy balance. Desacetyl-α-MSH, the precursor for α-MSH, is present in brain and blood.
Mountjoy, Kathleen G., Caron, Alexandre, Hubbard, Kristina, Shome, Avik, Grey, Angus C., Sun, Bo, Bould, Sarah, Middleditch, Martin, Pontré, Beau, McGregor, Ailsa, Harris, Paul W.R., Kowalczyk, Renata, Brimble, Margaret A., Botha, Rikus, Tan, Karen M.L., Piper, Sarah J., Buchanan, Christina, Lee, Syann, Coll, Anthony P., Elmquist, Joel K.   +19 more
openaire   +7 more sources

Innovations in Obesity Treatment: Beyond Adipose Tissue Dysfunction

Obesity Reviews, EarlyView.
Obesity drives chronic inflammation, insulin resistance, type 2 diabetes, and cancer development through adipocyte dysfunction. Addressing this multisystemic disorder requires integrated strategies beyond diet and exercise, such as thermogenesis activation via menthol or capsinoids and appetite control through GLP‐1/GIP agonists and neuromodulation to ...
Jesica Martínez‐Godfrey, Irene Pomares‐Bri, Paula de Juan‐Maciá, Mariló Olivares‐Vicente, Enrique Barrajón‐Catalán, Vicente Micol, Enrique Roche, María Herranz‐López   +7 more
wiley   +1 more source

Photoprotective potential of gadusol against ultraviolet B radiation in melanocytes

Photochemistry and Photobiology, EarlyView.
Gadusol protects melanocytes from ultraviolet B (UVB)‐induced damage without cytotoxicity. Abstract The increasing incidence of skin cancer, including melanoma, combined with the need for ultraviolet (UV) filters that are safe for human health and marine ecosystems, is driving the search for new photoprotective agents.
Andressa Mai Matsumoto, Rocío Isla Naveira, Andy Joel Taipe Huisa, Marcelo Augusto Germani Marinho, Lais Zortéa, José María Monserrat, Agueda Elena Massa, María Sandra Churio, Ana Paula de Souza Votto   +8 more
wiley   +1 more source