Results 81 to 90 of about 6,761,337 (191)

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]

, 2016
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel, NIHR BioResource, Richardson, Sylvia, Turro, Ernest   +3 more
core   +3 more sources

Characterization of Visceral Adipose Tissue Proteome Reveals Metabolic Changes and Inflammatory Signatures in Severe Obesity

Obesity, Volume 34, Issue 1, Page 127-137, January 2026.
ABSTRACT Objective Severe obesity poses a major public health concern due to its links with cardiometabolic complications and mortality. Visceral adipose tissue (VAT) plays a key role in these processes through distinct molecular features. This study aimed to characterize the VAT proteome of individuals with severe obesity and investigate its ...
Prince Dadson, Miikka‐Juhani Honka, Tomi Suomi, Anne Rokka, Saila Kauhanen, Paulina Salminen, Mika Helmiö, Peter James, Laura L. Elo, Vesa M. Olkkonen, Pirjo Nuutila   +10 more
wiley   +1 more source

SILAC-MS Based Characterization of LPS and Resveratrol Induced Changes in Adipocyte Proteomics:Resveratrol as Ameliorating Factor on LPS Induced Changes [PDF]

, 2016
Adipose tissue inflammation is believed to play a pivotal role in the development obesity-related morbidities such as insulin resistance. However, it is not known how this (low-grade) inflammatory state develops.
Enghild, Jan J, Knudsen, Anders D, Kroager, Toke P, Nøhr, Mark K, Pedersen, Steen B, Richelsen, Bjørn, Sanggaard, Kristian W, Stensballe, Allan, Ølholm, Jens   +8 more
core   +2 more sources

Lysine Catabolism and In Vivo Substrate Specificity of D-Amino Acid Dehydrogenases in Pseudomonas Aeruginosa PAO1 [PDF]

, 2016
Among multiple interconnected pathways for L-Lysine catabolism in pseudomonads, it has been reported that Pseudomonas aeruginosa PAO1 employs the decarboxylase and the transaminase pathways.
Indurthi, Sai Madhuri
core   +2 more sources

Exploring and Validating the Molecular Mechanisms Linking Fatty Acid Metabolism and Sarcopenia

IET Systems Biology, Volume 20, Issue 1, January/December 2026.
This study provides reference for fatty acid metabolism related potential candidate genes for sarcopenia and initially creates an effective machine learning models for further investigating the direction of the mechanism level. ABSTRACT Sarcopenia is an ageing‐related disease characterised primarily by skeletal muscle functional decline.
Ruopeng Yang, Shan Gu, Yang Li, Ping Xia
wiley   +1 more source

Proteomic analysis of the response to cell cycle arrests in human myeloid leukemia cells [PDF]

, 2015
Previously, we analyzed protein abundance changes across a ‘minimally perturbed’ cell cycle by using centrifugal elutriation to differentially enrich distinct cell cycle phases in human NB4 cells (Ly et al., 2014).
Ahmad, Alvino, Banfalvi, Boisvert, Celona, Chen, Cheng, Cooper, Cooper, Cox, Cox, Cox, Croft, Espenshade, Feser, Isserlin, Iyer, Kanehisa, Karnavas, Kirkwood, Klotz-Noack, Lanotte, Larance, Larance, Ly, Ma, Naetar, O'Farrell, Oki, Pardee, Petermann, Pines, Pines, Ritorto, Saintigny, Shannon, Shedden, Spencer, Subramanian, Timson, Vassilev, Ward, Young, Zeman, Zetterberg   +44 more
core   +5 more sources

Integrated Mendelian Randomization and Single‐Cell RNA Sequencing Analyses Reveal Lactate Metabolism as a Key Pathway in COVID‐19‐Induced Pulmonary Fibrosis

Canadian Respiratory Journal, Volume 2026, Issue 1, 2026.
Background The COVID‐19 pandemic has led to a variety of long‐term complications, with COVID‐19‐induced idiopathic pulmonary fibrosis (IPF) becoming a major concern. However, the underlying mechanisms, effective therapeutic strategies, and long‐term prognosis of COVID‐19‐related pulmonary fibrosis remain unclear.
Xin Zhang, Liping Jia, Tuersun Yeziya, Shuyan Yang, Miaomiao Chen, Yan Mo, Xia Tong, Lanlan Zhang, Zijing Zhou   +8 more
wiley   +1 more source

Diagnosis and management of glutaric aciduria type I – revised recommendations [PDF]

, 2011
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury
A Boneh, A Cerisola, A Laich, A MacDonald, AA Basinger, AA Monavari, AAM Morris, Alberto B. Burlina, Alessandro P. Burlina, AM Krstulovic, Angels García Cazorla, AP Burlina, Avihu Boneh, AW Elster, B Wilcken, Bridget Wilcken, C Busquets, C Gitiaux, C Mellerio, C Mühlhausen, Cheryl R. Greenberg, Chris Mühlhausen, CR Greenberg, CR Greenberg, D Wert, David M. Koeller, DEM Francis, DH Chace, DH Morton, DW Seccombe, E Christensen, E Christensen, E Monbaliu, E Müller, E Neumaier-Probst, EA Crombez, Edith Müller, EL Twomey, EP Treacy, ER Naughten, Ernst Christensen, G Huner, G Rakocevic, Georg F. Hoffmann, GF Hoffmann, GF Hoffmann, I Baric, I Harting, J Brismar, J Heringer, J Rice, J Woelfle, J Zschocke, James V. Leonard, JB Hennermann, JC Haworth, JF Martinez-Lage, JH Walter, JH Walter, JK Hald, Jürgen G. Okun, KA Strauss, KA Strauss, KB Bjugstad, KG Dewey, KK Oguz, LM Hartley, M Dixon, M Kyllerman, M Kyllerman, M Köhler, M Lindner, M Lindner, M Nasser, M Rijn Van, Marinus Duran, Marjorie Dixon, MH Beauchamp, MJ Barry, MJ Thomason, MS Watson, Mårten Kyllerman, N Napolitano, NJ Brandt, NK Desai, O Bähr, OY Al-Dirbashi, P Garcia, Peter Burgard, PH Lipkin, R Forstner, RA Chalmers, RC Gallagher, RJ Pollitt, S Bijarnia, S Kölker, S Kölker, S Kölker, S Külkens, S Tortorelli, S Yannicelli, SI Goodman, SI Goodman, SK Lin, Stefan Kölker, Stephen I. Goodman, SW Sauer, TD Sanger, V Lütcherath, V Prietsch, VM McClelland, WE Smith, WJ Zinnanti, World Health Organization, Y Shigematsu, Z Fu, ZA Jamjoom   +116 more
core   +3 more sources

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China [PDF]

PeerJ
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue   +4 more
doaj   +2 more sources