Show
Sort by
-
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
-
- Journal Article
- A1
- open access
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
-
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
-
- Journal Article
- A1
- open access
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution
-
- Journal Article
- A1
- open access
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
-
- Journal Article
- A1
- open access
Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression
-
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
-
- Journal Article
- A1
- open access
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression
-
- Journal Article
- A1
- open access
FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins
-
The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways
-
AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model
-
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
-
- Journal Article
- A1
- open access
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
-
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
-
- Journal Article
- A1
- open access
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
-
An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model
-
Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta
-
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
-
Integrative pathway genomics of lung function and airflow obstruction
-
The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy
-
- Journal Article
- A1
- open access
Abnormal retinal development associated with FRMD7 mutations
-
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
-
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
-
GATA3 antagonizes cancer progression in PTEN-deficient prostates
-
GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
-
Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus
-
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots
-
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes
-
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies
-
Mutant HSPB8 causes motor neuron-specific neurite degeneration
-
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
-
Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations
-
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
-
GRM7 variants confer susceptibility to age-related hearing impairment
-
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy
-
- Journal Article
- A1
- open access
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
-
- Journal Article
- A1
- open access
Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex
-
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
-
- Journal Article
- A1
- open access
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
-
Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer
-
- Journal Article
- A1
- open access
Paternal age at birth is an important determinant of offspring telomere length
-
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations
-
The coding polymorphism T263I in TGF-beta 1 is associated with otosclerosis in two independent populations
-
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
-
MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene
-
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
-
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
-
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
-
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands
-
E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells