Dysregulation of the immune response in TGF-β signalopathies
MM Rodari, N Cerf-Bensussan, M Parlato - Frontiers in Immunology, 2022 - frontiersin.org
The transforming growth factor-β (TGF-β) family of cytokines exerts pleiotropic functions
during embryonic development, tissue homeostasis and repair as well as within the immune …
during embryonic development, tissue homeostasis and repair as well as within the immune …
Messenger RNA transport on lysosomal vesicles maintains axonal mitochondrial homeostasis and prevents axonal degeneration
In neurons, RNA granules are transported along the axon for local translation away from the
soma. Recent studies indicate that some of this transport involves hitchhiking of RNA …
soma. Recent studies indicate that some of this transport involves hitchhiking of RNA …
Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date
Abstract The Ehlers–Danlos syndromes (EDS) are a collection of rare hereditary connective
tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical …
tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical …
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits
named BORCS1–8. BORC associates with the cytosolic face of lysosomes, where it …
named BORCS1–8. BORC associates with the cytosolic face of lysosomes, where it …
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
Background The diagnostic yield of whole-exome sequencing (WES) varies from 30%–50%
among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability …
among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability …
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects
L AlAbdi, M Desbois, DV Rusnac, RA Sulaiman… - Brain, 2023 - academic.oup.com
The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the
brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a …
brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a …
[HTML][HTML] Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
E Engal, KT Oja, R Maroofian, O Geminder… - The American Journal of …, 2023 - cell.com
Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Sclerosing skeletal dysplasias result from an imbalance between bone formation and
resorption. We identified three homozygous, C-terminally truncating AXIN1 variants in seven …
resorption. We identified three homozygous, C-terminally truncating AXIN1 variants in seven …
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
CM Rus, T Weissensteiner, C Pereira, I Susnea… - Orphanet Journal of …, 2022 - Springer
Background Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal
ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide …
ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide …
Genetic and Epidemiological Insights into RAB32‐Linked Parkinson's Disease
M Radefeldt, S Lemke, K Chaichoompu… - Movement …, 2024 - Wiley Online Library
Abstract Background The p. Ser71Arg RAB32 variant was recently associated with
Parkinson's disease (PD). Objective The aim was to investigate the presence of RAB32 …
Parkinson's disease (PD). Objective The aim was to investigate the presence of RAB32 …