about
The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresomeMorgana/chp-1, a ROCK inhibitor involved in centrosome duplication and tumorigenesisWilliams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseA fish-specific transposable element shapes the repertoire of p53 target genes in zebrafishVHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.MicroRNA expression profiling in male and female familial breast cancer.Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegation.TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survivalReport of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.Expression of base excision repair key factors and miR17 in familial and sporadic breast cancermiR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype.Copy number variants at Williams-Beuren syndrome 7q11.23 region.Peroxisome proliferator-activated receptor γ-mediated induction of microRNA-145 opposes tumor phenotype in colorectal cancer.HDAC6 mediates the acetylation of TRIM50.TRIM8 modulates p53 activity to dictate cell cycle arrest.A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.Identification of p53-target genes in Danio rerioA New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.TRIM50 regulates Beclin 1 proautophagic activity.GPR143 mutational analysis in two Italian families with X-linked ocular albinism.Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytomaGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathwaysDissecting KMT2D missense mutations in Kabuki syndrome patientsNovel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeCOL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapA novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathwayResponse to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 geneMutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsAQP4 Aggregation State Is a Determinant for Glioma Cell FateCharacterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related DisordersTAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasisMolecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
P50
Q24293114-C5E23A08-5BBC-4895-B46E-26E174373410Q24303403-7C07029E-A8CC-43E1-B09E-DA9CBE0EF027Q24647356-7CE49222-27DF-432B-AB6C-753056D48EA4Q28714308-7F71524F-8A0D-446B-8917-CAB09E725C12Q33633311-DF037AEA-6B71-4AF3-B80E-1AF1513B098AQ34328422-F5D338F5-F281-47CB-841C-870BC764BEC0Q34522233-47CE5B88-9FAA-41DA-B109-C79D9DAC4B32Q34687031-7DBA0EEE-2E6E-4996-8C6D-9CA2AAE1B065Q35235333-AD98D13A-002C-4EE0-8986-BF2B397786FEQ35664663-E708A051-D4A0-4C28-A160-0CFE6E2037E9Q36803036-D677592F-B982-4394-A35D-B25686A1BA45Q37620662-770FDC23-F910-436B-BD93-C0B543CBE97BQ37697004-346798AF-8370-4DC9-8436-A1DD8DDE7204Q37741019-75D5A3BC-85C4-4862-AB06-45FBBFBF5F1DQ38308401-7DD262EA-F3DD-4454-940C-5FECC3FEE366Q39048275-814AF708-87A5-41B8-A1B5-1B5BF7AE30B0Q39409358-47D46A59-6B7A-492D-82CF-9F04D6228FC9Q40203492-CA20A32C-C5D6-4C58-B574-461F7D2D674BQ40991008-D948EEF7-E1C3-400C-A071-F34BC8843585Q45938326-DA002A30-B837-4447-95A0-672EEB4AC496Q48246014-2EE69FA6-EF64-4F7F-B60F-BAA3504CC3DAQ50237955-BCF01C6A-6F6B-4673-BD0F-C57912EA9A38Q50748004-4D822098-9533-46A7-86D4-3AF7AC667A06Q52336048-B8E0BA53-C53B-480C-848A-0258FFDEA159Q54473307-3B036FBA-95BF-4E16-857B-5EF1390C92E0Q60589885-FFDB00E0-1223-482F-80C6-662D374AC7DDQ61548617-570ACDBE-3AE4-4DB6-AFD4-1742D64A6488Q87139132-C4A7A249-1F3A-4E20-9B50-77276C87500DQ90351848-C70A5E3E-A284-4F4D-83A3-681D16E26A04Q90943870-93D3ADD8-01CE-4F3F-8AEA-C5511EA92A16Q91490794-BCC3CC6B-80C4-4A21-B317-CDF720F50380Q91634361-9484E24C-A03D-4E65-A75F-28DA7EDA9AE5Q91763138-6DB32087-3381-4A8B-B506-C902F46F4A11Q91884901-A64DF8D6-126D-4051-B801-741A5F9CE386Q91924984-46535466-0326-49DC-A440-EE4A27DE22ACQ92402031-2DA9218E-320C-458F-BEA5-CEEC0758F016Q92662184-984FF1D7-2CD6-4011-86F5-AB697F423826Q93095702-41275662-1EEF-4129-802B-986CC70B5E72Q93120440-618E8AE9-7AB0-40B5-A6DD-37CD277996CB
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Lucia Micale
@en
Lucia Micale
@nl
type
label
Lucia Micale
@en
Lucia Micale
@nl
prefLabel
Lucia Micale
@en
Lucia Micale
@nl
P106
P21
P31
P496
0000-0003-3604-194X