Detalhe da pesquisa
1.
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
PLoS Genet
; 17(2): e1009339, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524049
2.
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Hum Genet
; 142(3): 457-476, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697720
3.
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
Hum Mol Genet
; 28(11): 1801-1809, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657919
4.
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Proc Natl Acad Sci U S A
; 115(34): E8037-E8046, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082390
5.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
6.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
7.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065471
8.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721179
9.
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
Am J Med Genet A
; 179(6): 908-914, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896082
10.
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
Am J Hum Genet
; 97(4): 521-34, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365339
11.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 107(2): 374, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763190
12.
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
J Bone Miner Res
; 38(11): 1718-1730, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718532
13.
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
EMBO Mol Med
; 15(4): e16834, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916446
14.
Loss of TANGO1 Leads to Absence of Bone Mineralization.
JBMR Plus
; 5(3): e10451, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33778321
15.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
HGG Adv
; 2(4): 100051, 2021 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047842
16.
Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions.
Sci Rep
; 9(1): 18037, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792282
17.
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
Orphanet J Rare Dis
; 14(1): 138, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31196143
18.
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
Matrix Biol
; 70: 72-83, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29551664
19.
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
J Bone Miner Res
; 30(8): 1445-56, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25656619