Results 61 to 70 of about 15,514 (222)

A Case of Infantile Achalasia in Alacrima–Achalasia–Mental Retardation Syndrome: A Rare and Complex Association [PDF]

Journal of Clinical and Diagnostic Research
Alacrima-Achalasia-Mental Retardation (AAMR) syndrome, also known as GDP-Mannose Pyrophosphorylase A (GMPPA) Congenital Disorder of Glycosylation (GMPPA-CDG), is a rre autosomal recessive condition characterised by alacrima, achalasia, and intellectual ...
Apoorva Makan, Ritika Gupta, Pranav Jadhav, Aniruddha Bhagwat, Dhananjay Vaze   +4 more
doaj   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Specific Detection of Sialyltransferase ST3GAL3 Towards Lipid Acceptors by Liquid Chromatography Coupled with Tandem Mass Spectrometry Indicates Total Loss of Enzyme Activity in ST3GAL3 Pathogenic Variants

Biomedicines
Background: Pathogenic ST3GAL3 variants cause neurological and cognitive impairment, defining a distinct congenital disorder of glycosylation (ST3GAL3-CDG). Nonetheless, limited enzyme characterization exists due to the lack of a non-radiochemical assay.
Sara Penati, Michele Dei Cas, Linda Montavoci, Anna Caretti, Marco Trinchera   +4 more
doaj   +1 more source

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Molecular Genetics and Metabolism Reports, 2020
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene.
Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel   +10 more
doaj   +1 more source

Genetic susceptibility loci for cardiovascular disease and their impact on atherosclerotic plaques [PDF]

, 2018
Background: Atherosclerosis is a chronic inflammatory disease in part caused by lipid uptake in the vascular wall, but the exact underlying mechanisms leading to acute myocardial infarction and stroke remain poorly understood. Large consortia identified
Asselbergs, Folkert W, Björkegrenn, Johan L.M, de Bakker, Paul I.W, de Borst, Gert J., den Ruijter, Folkert W, Dichgans, Martin, Erdmann, Jeanette, Ford, Ian, Foroughi Asl, Hassan, Haitjema, Saskia, Hedin, Ulf, Malik, Rainer, Mokry, Michal, Pasterkamp, Gerard, Paulsson-Berne, Gabrielle, Perisic, Ljubica, Samani, Nilesh J, Sattar, Naveed, Schunkert, Heribert, Siemelink, Marten A., Stott, David J., van der Laan, Sander W., van Setten, Jessica, Worrall, Bradford B   +23 more
core   +2 more sources

Porphyromonas gingivalis GroEL accelerates abdominal aortic aneurysm formation by matrix metalloproteinase‐2 SUMOylation in vascular smooth muscle cells: A novel finding for the activation of MMP‐2

Molecular Oral Microbiology, EarlyView.
Abstract Infection is a known cause of abdominal aortic aneurysm (AAA), and matrix metalloproteases‐2 (MMP‐2) secreted by vascular smooth muscle cells (SMCs) plays a key role in the structural disruption of the middle layer of the arteries during AAA progression.
Yi‐Wen Lin, Feng‐Yen Lin, Ze‐Hao Lai, Chien‐Sung Tsai, Yi‐Ting Tsai, Yen‐Sung Huang, Chen‐Wei Liu   +6 more
wiley   +1 more source

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation

Frontiers in Genetics, 2020
ObjectiveThis study reports a Chinese patient with a Congenital Disorder of Glycosylation (CDG) caused by compound-heterozygous mutations in the Conserved Oligomeric Golgi 5 (COG5) gene and thereby offers concrete evidence for early diagnosis.MethodsThe ...
Xi Wang, Lin Han, Xiao-Yan Wang, Jian-Hong Wang, Xiao-Meng Li, Chun-Hua Jin, Lin Wang   +6 more
doaj   +1 more source

What was that again, Congenital Disorder of Glycosylation? [PDF]

, 2012
New technology and research are continuously changing our understanding of the human body, and newly emerging diseases are continuously being discovered, such as Congenital Disorder of Glycosylation (CDG).
Roberts, Janelle
core   +2 more sources

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]

, 2015
BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar, Ali, Nadir, Ambalavanan, Amirthagowri, Amin-ud-Din, Muhammad, Ansar, Muhammad, Ayaz, Muhammad, Ayub, Muhammad, Brohi, Muhammad Qasim, Caron, Chantal, Christian, Mehtab, Egger, Gerald, Fennell, Alanna, Forgeot d'Arc, Baudouin, Johnson, Amelie, Khan, Falak Sher, Laurent, Sandra, Leblond, Claire S, Mahmood, Huda, Mottron, Laurent, Nanjiani, Zohair, Rafiq, Muhammad Arshad, Rasheed, Saima, Saqib, Muhammad Arif Nadeem, Shaheen, Naseema, So, Joyce, Spiegelman, Dan, Vincent, Akshita K, Vincent, John B, Waqas, Ahmed, Xiong, Lan   +29 more
core   +2 more sources