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1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Article
in English
| MEDLINE | ID: mdl-34715011
2.
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Cell Mol Life Sci
; 79(11): 562, 2022 Oct 22.
Article
in English
| MEDLINE | ID: mdl-36271951
3.
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Hum Mutat
; 41(6): 1145-1156, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32126153
4.
Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
J Biol Chem
; 293(33): 12862-12876, 2018 08 17.
Article
in English
| MEDLINE | ID: mdl-29880640
5.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Article
in English
| MEDLINE | ID: mdl-27745832
6.
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Cell Mol Life Sci
; 80(1): 37, 2023 Jan 11.
Article
in English
| MEDLINE | ID: mdl-36627535
7.
Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal.
Cell Physiol Biochem
; 46(2): 713-726, 2018.
Article
in English
| MEDLINE | ID: mdl-29621776
8.
Mutation or knock-down of 17ß-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Hum Mol Genet
; 23(13): 3618-28, 2014 Jul 01.
Article
in English
| MEDLINE | ID: mdl-24549042
9.
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Am J Hum Genet
; 90(4): 701-7, 2012 Apr 06.
Article
in English
| MEDLINE | ID: mdl-22424600
10.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22265013
11.
Carnosine metabolism in diabetes is altered by reactive metabolites.
Amino Acids
; 47(11): 2367-76, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26081982
12.
Up-regulation of neutrophil gelatinase-associated lipocalin in colorectal cancer predicts poor patient survival.
World J Surg
; 38(8): 2160-7, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24682311
13.
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
NPJ Precis Oncol
; 8(1): 119, 2024 May 24.
Article
in English
| MEDLINE | ID: mdl-38789506
14.
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
Front Immunol
; 14: 1157421, 2023.
Article
in English
| MEDLINE | ID: mdl-36960056
15.
Changes in mitochondrial redox state, membrane potential and calcium precede mitochondrial dysfunction in doxorubicin-induced cell death.
Biochim Biophys Acta
; 1813(6): 1144-52, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21406203
16.
Cold ischemia contributes to the development of chronic rejection and mitochondrial injury after cardiac transplantation.
Transpl Int
; 23(12): 1282-92, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20561305
17.
Dkk-3 expression in the tumor endothelium: a novel prognostic marker of pancreatic adenocarcinomas.
Cancer Sci
; 100(8): 1414-20, 2009 Aug.
Article
in English
| MEDLINE | ID: mdl-19493271
18.
Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
Front Immunol
; 10: 2837, 2019.
Article
in English
| MEDLINE | ID: mdl-31879527
19.
C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
Front Immunol
; 10: 2537, 2019.
Article
in English
| MEDLINE | ID: mdl-31749804
20.
Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.
Front Immunol
; 10: 2962, 2019.
Article
in English
| MEDLINE | ID: mdl-31921203