Results 61 to 70 of about 6,753,476 (214)

Deficiency of the purinergic receptor 2X7 attenuates nonalcoholic steatohepatitis induced by high-fat diet. possible role of the NLRP3 Inflammasome [PDF]

, 2017
Molecular mechanisms driving transition from simple steatosis to nonalcoholic steatohepatitis (NASH), a critical step in the progression of nonalcoholic fatty liver disease (NAFLD) to cirrhosis, are poorly defined. This study aimed at investigating the
Blasetti Fantauzzi, Claudia, Iacobini, Carla, Menini, Stefano, Pugliese, Giuseppe, Rossi, Chiara, Santini, Eleonora, Solini, Anna   +6 more
core   +3 more sources

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Frontiers in Genetics, 2020
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller   +13 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

Mapping the sequences of potential guanine quadruplex motifs. [PDF]

, 2011
The knowledge that potential guanine quadruplex sequences (PQs) are non-randomly distributed in relation to genomic features is now well established.
Neidle, S, Todd, AK
core   +2 more sources

LncRNA ALMS1-IT1 is a novel prognostic biomarker and correlated with immune infiltrates in colon adenocarcinoma

Medicine, 2022
Colon adenocarcinoma (COAD) is one of the most serious cancers. It is important to accurately predict prognosis and provide individualized treatment. Evidence suggests that clinicopathological features and immune status of the body are related to the ...
Yuning Lin, Ying Li, Yongquan Chen, Zhongying Zhang   +3 more
semanticscholar   +1 more source

Metabolomic Signatures of Prediabetes in Mexican Americans: The Role of Genetics and Macronutrients

Advanced Genetics, Volume 6, Issue 4, December 2025.
We studied how genes and diet influence metabolites in Mexican Americans. We found new genetic links to 17 blood metabolites and discovered 7 interactions between genetic variants and macronutrients like protein and various types of fat. These findings could help personalize strategies for preventing diabetes based on genetic and dietary factors in ...
Shinhye Chung, Charles Evans, Charles F. Burant, Han Chen, Bing Yu, David Aguilar, Eric L. Brown, Craig L. Hanis, Goo Jun   +8 more
wiley   +1 more source

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome

Frontiers in Genetics, 2023
Purpose: Alström syndrome (AS) is a rare autosomal recessive disorder caused by variants of ALMS1. The objectives of this study were to describe the clinical and genetic characteristics of 19 Chinese patients with biallelic variants in ALMS1.Methods: We ...
Jie Shi, Ke Xu, Xin Zhang, Yue Xie, Haoyu Chang, Yang Li   +5 more
doaj   +1 more source

The transcription factor Zeb2 regulates development of conventional and plasmacytoid DCs by repressing Id2 [PDF]

, 2016
Plasmacytoid dendritic cells (DCs [pDCs]) develop from pre-pDCs, whereas two lineages of conventional DCs (cDCs; cDC1s and cDC2s) develop from lineage-committed pre-cDCs.
Bachem, Bajaña, Bart N. Lambrecht, Bieke Soen, Broos, Broos, Caton, Cerovic, Charlotte L. Scott, Cisse, Danny Huylebroeck, De Craene, Denecker, Dominguez, Edelson, Geert Berx, Gert Van Isterdael, Ghosh, Gillian Blancke, Goossens, Grajales-Reyes, Greter, Guilliams, Hacker, Haniffa, Hegarty, Helft, Higashi, Hildner, Jackson, Joachim Taminau, Jody Haigh, Kashiwada, Lewis, Li, Liesbet Martens, Liu, Martin Guilliams, Merad, Miller, Murphy, Naik, Nicolas Skrypek, Omilusik, Onai, Persson, Persson, Remacle, Satpathy, Schlitzer, Schlitzer, Scott, Scott, Spits, Swiecki, Tailor, Tamura, Tatari, Tussiwand, van Helden, Welty, Williams, Wouter Saelens, Wu, Yvan Saeys   +64 more
core   +2 more sources

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source