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1.
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
Am J Med Genet A
; 188(7): 2184-2186, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35373511
2.
Known Drugs Identified by Structure-Based Virtual Screening Are Able to Bind Sigma-1 Receptor and Increase Growth of Huntington Disease Patient-Derived Cells.
Int J Mol Sci
; 22(3)2021 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33525510
3.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906221
4.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28965847
5.
A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.
Int J Mol Sci
; 21(5)2020 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32182809
6.
A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics.
Int J Mol Sci
; 20(18)2019 Sep 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-31533246
7.
Parkin Mutation Affects Clock Gene-Dependent Energy Metabolism.
Int J Mol Sci
; 20(11)2019 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31195749
8.
Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure?
Amino Acids
; 49(7): 1147-1157, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28396959
9.
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1.
J Cell Mol Med
; 19(7): 1593-605, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25783564
10.
A nitric oxide-dependent cross-talk between class I and III histone deacetylases accelerates skin repair.
J Biol Chem
; 288(16): 11004-12, 2013 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-23463510
11.
Detrimental effect of class-selective histone deacetylase inhibitors during tissue regeneration following hindlimb ischemia.
J Biol Chem
; 288(32): 22915-29, 2013 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-23836913
12.
Nε-lysine acetylation determines dissociation from GAP junctions and lateralization of connexin 43 in normal and dystrophic heart.
Proc Natl Acad Sci U S A
; 108(7): 2795-800, 2011 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21282606
13.
Probiotic-enriched foods and dietary supplement containing SYNBIO positively affects bowel habits in healthy adults: an assessment using standard statistical analysis and Support Vector Machines.
Int J Food Sci Nutr
; 65(8): 994-1002, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25045832
14.
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Stem Cell Res
; 78: 103468, 2024 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-38852424
15.
Amniotic fluid stem cell-derived extracellular vesicles educate type 2 conventional dendritic cells to rescue autoimmune disorders in a multiple sclerosis mouse model.
J Extracell Vesicles
; 13(6): e12446, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38844736
16.
P300/CBP associated factor regulates nitroglycerin-dependent arterial relaxation by N(ε)-lysine acetylation of contractile proteins.
Arterioscler Thromb Vasc Biol
; 32(10): 2435-43, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22859492
17.
Circadian profile, daytime activity, and the Parkinson's phenotype: A motion sensor pilot study with neurobiological underpinnings.
Neurobiol Sleep Circadian Rhythms
; 14: 100094, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37025301
18.
Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.
Front Cell Dev Biol
; 11: 1141334, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36819100
19.
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Stem Cell Res
; 67: 103023, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36638628
20.
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.
Children (Basel)
; 10(9)2023 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37761412