Results 51 to 60 of about 167,517,803 (126)

Management and Modification of Flavonoids Against Nonalcoholic Fatty Liver Disease

Food Bioengineering, Volume 4, Issue 3, Page 262-278, September 2025.
Flavonoids protect against NAFLD by enhancing mitochondrial function, reducing ER stress, and modulating gut microbiota. Structural modifications improve flavonoid efficacy, offering a promising dietary strategy for NAFLD management. ABSTRACT Flavonoids are small bioactive molecules commonly found in plant‐derived foods, exhibiting antioxidant, anti ...
Weidong Bai, Bingqi Huang, Wenhong Zhao, Gongliang Liu, Limei Yu, Zhi Lu, Hong Wang   +6 more
wiley   +1 more source

Micro-magnetic resonance imaging and embryological analysis of wild-type and pma mutant mice with clubfoot [PDF]

, 2010
Gross similarities between the external appearance of the hind limbs of the peroneal muscle atrophy (pma) mouse mutant and congenital talipes equinovarus (CTEV), a human disorder historically referred to as 'clubfoot', suggested that this mutant could be
Liu, Guoqing, Miedzybrodzka, Zosia, Schmidt, Katy, Chudek, Sandy, Tickle, Cheryll, Duce, Suzanne, Cunningham, Craig; id_orcid, Madrigal, Londale, Barker, Simon, Tennant, Gordon   +9 more
core   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Gut–X axis

iMeta, Volume 4, Issue 1, February 2025.
The concept of “gut–X axis”: the intestine and intestinal microbiota are proven to be able to modulate the pathophysiologic progressions of the extraintestinal organs' diseases. The bioactive chemicals and/or intestinal immune cells can translocate into the circulatory system and other organs and influence the immune reactions, metabolic status, cells ...
Xu Lin, Zuxiang Yu, Yang Liu, Changzhou Li, Hui Hu, Jia‐Chun Hu, Mian Liu, Qin Yang, Peng Gu, Jiaxin Li, Kutty Selva Nandakumar, Gaofei Hu, Qi Zhang, Xinyu Chen, Huihui Ma, Wenye Huang, Gaofeng Wang, Yan Wang, Liping Huang, Wenjuan Wu, Ning‐Ning Liu, Chenhong Zhang, Xingyin Liu, Leming Zheng, Peng Chen   +24 more
wiley   +1 more source

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) [PDF]

, 2010
Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function.
Miller, W. L., Lang-Muritano, M., Soccio, R. E., Miller, W L, Sahakitrungruang, T, Walker, J. M., Miller, WL, Walker, J M, Achermann, J. C., Achermann, JC, Lang-Muritano, M, Sahakitrungruang, T., Achermann, J C, Walker, JM, Soccio, R E, Soccio, RE   +15 more
core   +1 more source

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.
Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel, Lynne Wolfe, Ellen F. Macnamara   +2 more
wiley   +1 more source

A review of congenital heart block [PDF]

, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J., Buyon, Jill P., Friedman, Deborah M., Duncanson, L.J.   +3 more
core  

Discovering the Hidden Power of NGLY1: Orchestrating Immune Cell Functions and Autoimmune Diseases

Frontiers in Bioscience-Landmark
The enzyme N-glycanase 1 (NGLY1) regulates autophagic processes and endoplasmic reticulum (ER)-associated proteasomal degradation by de-N-glycosylation of misfolded glycoproteins.
Christina B. Brunner, Melissa C. Schubbert, Maximilian M. Siewert, Michèle Ohnemüller, Frederic Kuwert, Ulla I. M. Gerling-Driessen, Katharina Pracht   +6 more
doaj   +1 more source

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities

Clinical Genetics, Volume 106, Issue 5, Page 537-544, November 2024.
15q24.1 microdeletion syndrome is a rare condition, rarely diagnosed before birth. We give new insights into prenatal malformations and candidate genes involved in embryogenesis. Such malformations on ultrasound scan, may lead to prenatal genetic testing. Abstract 15q24.1 microdeletion syndrome is a recently described condition often resulting from non‐
Anaïk Previdi, Pénélope Jordan, Charles Egloff, Aurélie Coussement, Samira Ahmed‐Eli, Laure Tudal, Thierry Bienvenu, Olivier Picone, Jean‐Michel Dupont   +8 more
wiley   +1 more source

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature

European Journal of Medical Genetics
NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.
Yuri Sonoda, Atsushi Fujita, Michiko Torio, Takahiko Mukaino, Ayumi Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Yuko Ichimiya, Pin Fee Chong, Masayuki Ochiai, Yoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto, Yoshiko Murakami, Tadashi Suzuki, Noriko Isobe, Hiroshi Shigeto, Naomichi Matsumoto, Yasunari Sakai, Shouichi Ohga   +20 more
openaire   +2 more sources