Detalhe da pesquisa
1.
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism.
Development
; 149(19)2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189831
2.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038740
3.
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Am J Med Genet A
; 188(6): 1752-1760, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212137
4.
Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis.
J Hepatol
; 72(4): 725-735, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726117
5.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1356, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214448
6.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
7.
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Int J Mol Sci
; 18(3)2017 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28294978
8.
Improving mother-infant bonding in postnatal depression - The SURE MUMS study.
Asian J Psychiatr
; 81: 103457, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638754
9.
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
EMBO Mol Med
; 15(5): e17078, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066513
10.
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
Neuron
; 107(1): 82-94.e6, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330411
11.
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Nat Commun
; 11(1): 4589, 2020 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917887
12.
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Nat Commun
; 11(1): 5349, 2020 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077719