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1.
Ajay Kumar Parida (1963-2022), an eminent plant biotechnologist with a passion for mangrove biology.
Physiol Mol Biol Plants
; 29(8): 1073-1079, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37829700
2.
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.
Biochim Biophys Acta
; 1843(12): 2871-7, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25173816
3.
A vacuolar antiporter is differentially regulated in leaves and roots of the halophytic wild rice Porteresia coarctata (Roxb.) Tateoka.
Mol Biol Rep
; 42(6): 1091-105, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25481774
4.
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
BMC Med Genet
; 15: 42, 2014 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-24725993
5.
Spectrum of genetic variants in bilateral sensorineural hearing loss.
Front Genet
; 15: 1314535, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38410152
6.
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Front Pediatr
; 11: 1183574, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37502193
7.
Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.
Front Genet
; 14: 1219514, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37576556
8.
Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.
Front Mol Biosci
; 9: 828199, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35281255
9.
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.
Front Genet
; 11: 570355, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33173538
10.
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Comput Struct Biotechnol J
; 18: 1020-1027, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32382396
11.
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.
FEBS Open Bio
; 9(11): 1994-2005, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31587492
12.
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.
Sci Rep
; 8(1): 1583, 2018 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-29371607
13.
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
Orphanet J Rare Dis
; 11(1): 139, 2016 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-27769300
14.
Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.
Gene
; 561(1): 148-56, 2015 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-25688877
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