| Single nucleotide polymorphism in UQCC is associated with developmental dysplasia of the hip. | A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.
Sun Y, Wang C, Hao Z, Dai J, Chen D, Xu Z, Shi D, Mao P, Teng H, Gao X, Hu Z, Shen H, Jiang Q., Free PMC Article | 04/16/2016 |
| UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2. | A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. | 10/31/2015 |
| This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis. | Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR., Free PMC Article | 08/23/2014 |
| study identified a novel locus, i.e., the UQCC gene, for spine BS variation in humans. Future functional studies will contribute to elucidating the mechanisms by which UQCC regulates bone growth and development | Genome-wide association study identified UQCC locus for spine bone size in humans.
Deng FY, Dong SS, Xu XH, Liu YJ, Liu YZ, Shen H, Tian Q, Li J, Deng HW., Free PMC Article | 08/31/2013 |
| Data show that high serum VEGF levels are closely related to the activation status of the VEGFR2/KDR receptor in cancer cells, indicating a stimulatory effect of serum VEGF on the VEGF pathway contributing to tumor progression. | Serum VEGF levels and tissue activation of VEGFR2/KDR receptors in patients with breast and gynecologic cancer.
Koukourakis MI, Limberis V, Tentes I, Kontomanolis E, Kortsaris A, Sivridis E, Giatromanolaki A. | 07/23/2011 |
| Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts. | Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
Wang F, Agnello G, Sotolongo N, Segatori L. | 06/4/2011 |
| These data suggest that HLX may function to balance attractive with repulsive vessel guidance by up-regulating UNC5B and to down-modulate sprouting under normoxic conditions. | The VEGF-regulated transcription factor HLX controls the expression of guidance cues and negatively regulates sprouting of endothelial cells.
Testori J, Schweighofer B, Helfrich I, Sturtzel C, Lipnik K, Gesierich S, Nasarre P, Hofer-Warbinek R, Bilban M, Augustin HG, Hofer E., Free PMC Article | 05/14/2011 |
| High VEGF is associated with peripheral T-cell lymphoma. | Expression of tumor-associated macrophages and vascular endothelial growth factor correlates with poor prognosis of peripheral T-cell lymphoma, not otherwise specified.
Zhang W, Wang L, Zhou D, Cui Q, Zhao D, Wu Y. | 05/7/2011 |
| Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers. | Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers.
Unoki M. | 04/2/2011 |
| GPC3 was significantly more often and more strongly expressed in HCCs (72%) than in FLCs (17%). | Fibrolamellar hepatocellular carcinoma: an immunohistochemical comparison with conventional hepatocellular carcinoma.
Abdul-Al HM, Wang G, Makhlouf HR, Goodman ZD. | 02/26/2011 |
| Data show that a significant increase in plasma SDF-1alpha, and an immediate decrease in plasma VEGF and FGF levels after chemotherapy. | Late release of circulating endothelial cells and endothelial progenitor cells after chemotherapy predicts response and survival in cancer patients.
Roodhart JM, Langenberg MH, Vermaat JS, Lolkema MP, Baars A, Giles RH, Witteveen EO, Voest EE., Free PMC Article | 05/31/2010 |
| This paper describes the cloning of the human UQCC gene. | Expression of a novel mouse gene 'mbFZb' in distinct regions of the developing nervous system and the adult brain.
Vetter K, Wurst W. | 05/26/2010 |
| The majority of tumours showed strong p16, p21, p27, pRb and cyclin D1 staining and little or no p53 expression. Tumours harbouring dysplasia were significantly more likely to be p53-positive and exhibit up-regulated p21 and p27 | Expression of p53, p16INK4A, pRb, p21WAF1/CIP1, p27KIP1, cyclin D1, Ki-67 and HPV DNA in sinonasal endophytic Schneiderian (inverted) papilloma.
Altavilla G, Staffieri A, Busatto G, Canesso A, Giacomelli L, Marioni G. | 01/25/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB, Hammond N, Stolk L, Nica A, Inouye M, Hofman A, Stephens J, Wheeler E, Arp P, Gwilliam R, Jhamai PM, Potter S, Chaney A, Ghori MJ, Ravindrarajah R, Ermakov S, Estrada K, Pols HA, Williams FM, McArdle WL, van Meurs JB, Loos RJ, Dermitzakis ET, Ahmadi KR, Hart DJ, Ouwehand WH, Wareham NJ, Barroso I, Sandhu MS, Strachan DP, Livshits G, Spector TD, Uitterlinden AG, Deloukas P., Free PMC Article | 08/12/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGenetic 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. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.
Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL, Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI, Jarvelin MR. | 03/25/2009 |