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1.
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.
Hum Mol Genet
; 32(1): 30-45, 2023 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35908190
2.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum Mol Genet
; 30(3-4): 135-148, 2021 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33432339
3.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Am J Hum Genet
; 107(1): 96-110, 2020 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32589923
4.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Hum Mol Genet
; 29(18): 3044-3053, 2020 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32876667
5.
Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease.
Elife
; 122024 Jun 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38869243
6.
Multiomic profiling of transcription factor binding and function in human brain.
Nat Neurosci
; 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38831039
7.
Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease.
bioRxiv
; 2023 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37162872
8.
Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific cis-regulatory elements.
Cell Genom
; 3(3): 100263, 2023 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36950385
9.
Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs.
bioRxiv
; 2023 Oct 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37873117
10.
Identification of CK2 as the kinase that phosphorylates Pax3 at Ser209 in early myogenic differentiation.
Biochem Biophys Res Commun
; 428(1): 24-30, 2012 Nov 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-23058914
11.
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
Biol Psychiatry
; 87(9): 857-865, 2020 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32087949
12.
Acquisition of an oncogenic fusion protein is sufficient to globally alter the landscape of miRNA expression to inhibit myogenic differentiation.
Oncotarget
; 8(50): 87054-87072, 2017 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29152063
13.
Acquisition of an oncogenic fusion protein serves as an initial driving mutation by inducing aneuploidy and overriding proliferative defects.
Oncotarget
; 7(39): 62814-62835, 2016 Sep 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-27588498
14.
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.
Eur J Med Genet
; 57(10): 562-6, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25118007
15.
Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation.
Int J Biochem Cell Biol
; 43(6): 936-45, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21440083
16.
Phosphorylation of PAX3 contributes to melanoma phenotypes by affecting proliferation, invasion, and transformation.
Pigment Cell Melanoma Res
; 27(5): 846-8, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24903325
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