Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36044892
2.
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
J Pathol
; 263(2): 166-177, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38629245
3.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35348676
4.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34626534
5.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33596411
6.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32721402
7.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet
; 29(11): 1772-1783, 2020 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-31108500
8.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35396703
9.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Brain
; 144(10): 3020-3035, 2021 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-33964137
10.
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Hum Mol Genet
; 28(6): 1007-1022, 2019 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30481304
11.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Clin Genet
; 100(5): 563-572, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34346503
12.
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Hum Mutat
; 40(8): 1046-1056, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31059601
13.
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.
Hum Mol Genet
; 25(17): 3824-3835, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27466182
14.
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Hum Mutat
; 38(7): 798-804, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28390077
15.
BCM-95 and (2-hydroxypropyl)-ß-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.
Hum Mol Genet
; 24(15): 4198-211, 2015 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25926625
16.
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Hum Mol Genet
; 23(21): 5814-26, 2014 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24925315
17.
Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.
Hum Mol Genet
; 21(23): 5159-73, 2012 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22949512
18.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
medRxiv
; 2023 Jun 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37398376
19.
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
Hum Mol Genet
; 19(15): 2987-97, 2010 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20484222
20.
Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.
Protein Expr Purif
; 78(2): 209-15, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21463688