| Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism. | Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Pannier E, Sekri A, Roux N, Vasiljevic A, El Khattabi L, Chatron N, Grotto S, Menzella D, Grangé G, Thébault F, Massardier J, Fourrage C, Lohmann L, Tsatsaris V, Putoux A, Boutaud L, Attié-Bitach T. | 07/31/2024 |
| Tumor bud-derived CCL5 recruits fibroblasts and promotes colorectal cancer progression via CCR5-SLC25A24 signaling. | Tumor bud-derived CCL5 recruits fibroblasts and promotes colorectal cancer progression via CCR5-SLC25A24 signaling.
Gao LF, Zhong Y, Long T, Wang X, Zhu JX, Wang XY, Hu ZY, Li ZG., Free PMC Article | 04/16/2022 |
| SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study. | SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study.
Farrow E, Chiocchetti AG, Rogers JC, Pauli R, Raschle NM, Gonzalez-Madruga K, Smaragdi A, Martinelli A, Kohls G, Stadler C, Konrad K, Fairchild G, Freitag CM, Chechlacz M, De Brito SA., Free PMC Article | 10/16/2021 |
| This study confirms implication of the ACP1 gene in the treatment-related osteonecrosis in childhood acute lymphoblastic leukemia (ALL) and identifies novel, potentially causal variant of this complication. | Genes identified through genome-wide association studies of osteonecrosis in childhood acute lymphoblastic leukemia patients.
Gagné V, Aubry-Morin A, Plesa M, Abaji R, Petrykey K, St-Onge P, Beaulieu P, Laverdière C, Alos N, Leclerc JM, Sallan SE, Neuberg D, Kutok JL, Silverman LB, Sinnett D, Krajinovic M., Free PMC Article | 07/25/2020 |
| The SLC25A24 mutations lead to impaired mitochondrial ATP synthesis. | De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC., Free PMC Article | 11/18/2017 |
| The SLC25A24 mutations induce a gain of pathological function. | De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U., Free PMC Article | 11/18/2017 |
| Genetic analyses in human and mouse models revealed the importance of SLC25A24/Slc25a24 in the regulation of body fat mass and adipogenesis. | SLC25A24 as a novel susceptibility gene for low fat mass in humans and mice.
Urano T, Shiraki M, Sasaki N, Ouchi Y, Inoue S. | 08/8/2015 |
| N-terminal EF hands form a self-sequestered compact calmodulin like Ca-sensor in the presence of Ca2+ | A self-sequestered calmodulin-like Ca²⁺ sensor of mitochondrial SCaMC carrier and its implication to Ca²⁺-dependent ATP-Mg/P(i) transport.
Yang Q, Brüschweiler S, Chou JJ., Free PMC Article | 12/18/2013 |
| Compares and contrasts all the known human SLC25A* genes and includes functional information. | The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F. | 07/2/2013 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| SCaMC-1 is the human orthologue of the rabbit Efinal protein, which was reported to be located in peroxisomes | Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.
del Arco A, Satrústegui J. | 01/21/2010 |
| identification of three isoforms of the mitochondrial ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria | Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution.
Fiermonte G, De Leonardis F, Todisco S, Palmieri L, Lasorsa FM, Palmieri F. | 01/21/2010 |