Results 141 to 150 of about 1,253 (161)
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model [PDF]
Human Molecular Genetics, 2018 International audienceFamilial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T>C) that negatively affects the definition of exon 20 in the elongator complex protein 1 gene (ELP1 also known as
Elena Barbon +2 more
exaly +5 more sources
Familial Cancer, 2023 Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MBSHH subtype specifically.
Miriam Smith +2 more
exaly +5 more sources
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window [PDF]
Neuro-Oncology AdvancesBackground: ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.
Christelle Dufour +2 more
exaly +3 more sources
MEDB-84. The French experience of ELP1-related medulloblastomas
Neuro-Oncology, 2022 Abstract Medulloblastoma (MB), the most frequent embryonic tumor of the cerebellum is classified into four molecular subgroups (WNT group, SHH group, group 3 and group 4). Although the vast majority of MB are sporadic, predisposing genetic diseases have been described in rare WNT MB and more frequently in the SHH group.
Christelle Dufour +2 more
exaly +2 more sources
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia [PDF]
American Journal of Human Genetics, 2019 Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 in the nervous system.
Susan Slaugenhaupt +2 more
exaly +3 more sources
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia [PDF]
Human Molecular Genetics, 2011 Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role player in transcriptional elongation being a subunit of the RNAPII transcriptional Elongator multi-protein complex.
Miguel Weil, Gil Ast, Aharon Razin
exaly +3 more sources
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Elp1‐Mediated Mechanisms Underlying Trigeminal Ganglion Development
The FASEB Journal, 2022The trigeminal nerve is the largest of the cranial nerves and relays sensations of pain, touch, and temperature from the face and head back to the brain. Cell bodies for this nerve are positioned in the trigeminal ganglion, which arises from the coalescence of neurons and supporting glia derived from two important embryonic cell ...
Margaret Hines, Lisa Taneyhill
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Journal of Human Genetics, 2023 Abstract Background Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability and social deficits. The genetic factors underlying the complex phenotype of NDDs remain to be elucidated. Accumulating evidence suggest that the Elongator complex plays a role in
Marija Kojic +2 more
exaly +6 more sources