Detalhe da pesquisa
1.
NFIA in adipocytes reciprocally regulates mitochondrial and inflammatory gene program to improve glucose homeostasis.
Proc Natl Acad Sci U S A
; 120(31): e2308750120, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37487068
2.
Decision-making processes behind seeking regular cardiac checkups for individuals with Marfan syndrome: A grounded theory study.
J Genet Couns
; 2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965685
3.
NFIA differentially controls adipogenic and myogenic gene program through distinct pathways to ensure brown and beige adipocyte differentiation.
PLoS Genet
; 16(9): e1009044, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32991581
4.
Low-Level Germline 48,XYY,+21 Mosaicism Associated with Transient Abnormal Myelopoiesis in a Phenotypically Normal Neonate.
Cytogenet Genome Res
; 162(11-12): 625-631, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245502
5.
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan.
J Hum Genet
; 67(11): 623-628, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787654
6.
Implementation of Molecular Autopsy for Sudden Cardiac Death in Japanã- Focus Group Study of Stakeholders.
Circ J
; 87(1): 123-129, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36372399
7.
The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan.
J Hum Genet
; 66(3): 273-285, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943740
8.
Pharmacological prospects of G-quadruplexes for neurological diseases using porphyrins.
Biochem Biophys Res Commun
; 531(1): 51-55, 2020 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980177
9.
Epidemiology of Birth Defects in Very Low Birth Weight Infants in Japan.
J Pediatr
; 226: 106-111.e10, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634406
10.
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
J Hum Genet
; 65(3): 337-343, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857675
11.
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts.
Pharm Res
; 37(3): 61, 2020 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124083
12.
Atypical eosinophils as a biomarker of idiopathic pericardial effusion associated with transient abnormal myelopoiesis in Down syndrome.
Pediatr Blood Cancer
; 71(2): e30763, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950509
13.
Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization.
Biol Pharm Bull
; 40(1): 49-55, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28049948
14.
Effect of ATRX and G-Quadruplex Formation by the VNTR Sequence on α-Globin Gene Expression.
Chembiochem
; 17(10): 928-35, 2016 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26991472
15.
Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Am J Med Genet A
; 167(6): 1349-53, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900396
16.
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Pediatr Int
; 57(2): 324-6, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25868953
17.
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
No To Hattatsu
; 47(1): 49-52, 2015 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-25803912
18.
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
J Hum Genet
; 59(7): 408-10, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24898829
19.
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Ann Neurol
; 73(1): 48-57, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23225343
20.
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
Am J Med Genet A
; 164A(11): 2873-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099823