Results 151 to 160 of about 1,253 (161)
European Journal of Medicinal ChemistryFamilial dysautonomia is a debilitating congenital neurodegenerative disorder with no causative therapy. It is caused by a homozygous mutation in ELP1 gene, resulting in the production of the transcript lacking exon 20. The compounds studied as potential treatments include the clinical candidate kinetin, a plant hormone from the cytokinin family.
Jiří Voller
exaly +5 more sources
MBRS-24. FUNCTIONAL CHARACTERIZATION OF IKBKAP/ELP1 AS A NOVEL SHH MEDULLOBLASTOMA PREDISPOSITION GENE [PDF]
Neuro-Oncology, 2020 Abstract Medulloblastoma (MB), a common malignant pediatric brain tumor, comprises at least four distinct molecular entities: WNT, SHH, Group 3, and Group 4. SHH-MB is driven by aberrant activation of the Sonic hedgehog (SHH) pathway in granule neuron progenitors (GNPs) and is associated with hereditary cancer predisposition syndromes ...
Lena Kutscher, Daisuke Kawauchi
exaly +2 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
The FASEB Journal, 2022
Neurons in the trigeminal ganglion relay sensory information from the face and oral cavity to the brain. The trigeminal ganglion is unique in its complexity, containing a mixed population of modality‐specific (i.e., touch, pain) neurons derived from both neural crest and placodal precursors.
Carrie Leonard, Lisa Taneyhill
openaire +1 more source
Neurons in the trigeminal ganglion relay sensory information from the face and oral cavity to the brain. The trigeminal ganglion is unique in its complexity, containing a mixed population of modality‐specific (i.e., touch, pain) neurons derived from both neural crest and placodal precursors.
Carrie Leonard, Lisa Taneyhill
openaire +1 more source
FASEB Journal, 2013 A highly conserved germline point mutation located in the donor splice site of intron 20 of the human Elp1 gene leads to loss of its encoded protein and causes familial dysautonomia (FD; Riley‐Day Syndrome; hereditary sensory and autonomic neuropathy, type 3; HSAN3), an autosomal recessive disease characterized by severe and progressive sympathetic and
Marisa Z. Jackson +2 more
exaly +2 more sources
The FASEB Journal, 2018
Familial Dysautonomia (FD; Riley‐Day Syndrome; HSAN3) is a rare heritable disease characterized by debilitating sensory and sympathetic neuropathy. It is caused by a germline mutation of the Elp1 gene that leads to exon mis‐splicing, nonsense‐mediated truncation of the Elp1 protein and loss of Elp1 protein primarily in sympathetic and nociceptive ...
openaire +1 more source
Familial Dysautonomia (FD; Riley‐Day Syndrome; HSAN3) is a rare heritable disease characterized by debilitating sensory and sympathetic neuropathy. It is caused by a germline mutation of the Elp1 gene that leads to exon mis‐splicing, nonsense‐mediated truncation of the Elp1 protein and loss of Elp1 protein primarily in sympathetic and nociceptive ...
openaire +1 more source
Insect Resistance of Tobacco Plant Expressing CpBV-ELP1 Derived from a Polydnavirus
Korean Journal of Applied Entomology, 2017Eunseong Kim, Yonggyun Kim
openaire +1 more source
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2012
openaire +1 more source
openaire +1 more source
Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia
ELifeFrances Lefcort +2 more
exaly