Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

G Jones, K Trajanoska, AJ Santanasto… - Nature …, 2021 - nature.com
Low muscle strength is an important heritable indicator of poor health linked to morbidity and
mortality in older people. In a genome-wide association study meta-analysis of 256,523 …

Golgipathies in neurodevelopment: a new view of old defects

S Rasika, S Passemard, A Verloes… - Developmental …, 2019 - karger.com
The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid
biosynthesis and membrane secretion to the posttranslational processing and trafficking of …

Golgi trafficking defects in postnatal microcephaly: the evidence for “Golgipathies”

S Passemard, F Perez, E Colin-Lemesre… - Progress in …, 2017 - Elsevier
The Golgi apparatus plays a central role in cell homeostasis, not only in processing and
maturing newly synthesized proteins and lipids but also in orchestrating their sorting …

The cichlid oral and pharyngeal jaws are evolutionarily and genetically coupled

AJ Conith, RC Albertson - Nature Communications, 2021 - nature.com
Evolutionary constraints may significantly bias phenotypic change, while “breaking” from
such constraints can lead to expanded ecological opportunity. Ray-finned fishes have …

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

P Smits, AD Bolton, V Funari, M Hong… - … England Journal of …, 2010 - Mass Medical Soc
Background Establishing the genetic basis of phenotypes such as skeletal dysplasia in
model organisms can provide insights into biologic processes and their role in human …

A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation

CR Ferreira, ZJ Xia, A Clément, DA Parry… - The American Journal of …, 2018 - cell.com
The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular
transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and …

[HTML][HTML] Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

C Paganini, L Monti, R Costantini, R Besio, S Lecci… - Matrix Biology, 2019 - Elsevier
Abstract Desbuquois dysplasia type 1 (DBQD1) is a chondrodysplasia caused by mutations
in CANT1 gene encoding an ER/Golgi calcium activated nucleotidase 1 that hydrolyses …

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

A Dimitrov, V Paupe, C Gueudry… - Human Molecular …, 2009 - academic.oup.com
Abstract Dyggve-Melchior-Clausen dysplasia (DMC) is a rare inherited dwarfism with severe
mental retardation due to mutations in the DYM gene which encodes Dymeclin, a 669-amino …

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

N Dupuis, A Fafouri, A Bayot, M Kumar… - Human molecular …, 2015 - academic.oup.com
Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve–Melchior–Clausen
syndrome (DMC, MIM# 223800), a rare recessively inherited spondyloepimetaphyseal …

Identification of differentially expressed genes in pancreatic ductal adenocarcinoma and normal pancreatic tissues based on microarray datasets

L Liu, S Wang, C Cen, S Peng… - Molecular …, 2019 - spandidos-publications.com
Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive malignant tumor with
rapid progression and poor prognosis. In the present study, 11 high‑quality microarray …