Suchbegriffe: CELL CYCLE PROTEINS - GENETICS , . Treffer: 20
Rath, M; Spiegler, S; Strom, TM; Trenkler, J; Kroisel, PM; Felbor, U
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Am J Med Genet A. 2019; 179(2):295-299
Doi: 10.1002/ajmg.a.60700
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Elgohary, N; Pellegrino, R; Neumann, O; Elzawahry, HM; Saber, MM; Zeeneldin, AA; Geffers, R; Ehemann, V; Schemmer, P; Schirmacher, P; Longerich, T
Protumorigenic role of Timeless in hepatocellular carcinoma.
Int J Oncol. 2015; 46(2):597-606
Doi: 10.3892/ijo.2014.2751
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Heier, C; Radner, FP; Moustafa, T; Schreiber, R; Grond, S; Eichmann, TO; Schweiger, M; Schmidt, A; Cerk, IK; Oberer, M; Theussl, HC; Wojciechowski, J; Penninger, JM; Zimmermann, R; Zechner, R
G0/G1 Switch Gene 2 Regulates Cardiac Lipolysis.
J Biol Chem. 2015; 290(43):26141-50
Doi: 10.1074/jbc.M115.671842
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Mazumdar, C; Shen, Y; Xavy, S; Zhao, F; Reinisch, A; Li, R; Corces, MR; Flynn, RA; Buenrostro, JD; Chan, SM; Thomas, D; Koenig, JL; Hong, WJ; Chang, HY; Majeti, R
Leukemia-Associated Cohesin Mutants Dominantly Enforce Stem Cell Programs and Impair Human Hematopoietic Progenitor Differentiation.
Cell Stem Cell. 2015; 17(6): 675-688.
Doi: 10.1016/j.stem.2015.09.017
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949
Doi: 10.1093/hmg/ddu318
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Feichtinger, J; Aldeailej, I; Anderson, R; Almutairi, M; Almatrafi, A; Alsiwiehri, N; Griffiths, K; Stuart, N; Wakeman, JA; Larcombe, L; McFarlane, RJ
Meta-analysis of clinical data using human meiotic genes identifies a novel cohort of highly restricted cancer-specific marker genes.
Oncotarget. 2012; 3(8): 843-853.
Doi: 10.18632/oncotarget.580
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Lerchbaum, E; Giuliani, A; Gruber, HJ; Pieber, TR; Obermayer-Pietsch, B
Adult-type hypolactasia and calcium intake in polycystic ovary syndrome.
Clin Endocrinol (Oxf). 2012; 77(6):834-843
Doi: 10.1111/j.1365-2265.2012.04334.x
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Schweiger, M; Paar, M; Eder, C; Brandis, J; Moser, E; Gorkiewicz, G; Grond, S; Radner, FP; Cerk, I; Cornaciu, I; Oberer, M; Kersten, S; Zechner, R; Zimmermann, R; Lass, A
G0/G1 switch gene-2 regulates human adipocyte lipolysis by affecting activity and localization of adipose triglyceride lipase.
J Lipid Res. 2012; 53(11):2307-2317
Doi: 10.1194/jlr.M027409
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Demuth, I; Dutrannoy, V; Marques, W; Neitzel, H; Schindler, D; Dimova, PS; Chrzanowska, KH; Bojinova, V; Gregorek, H; Graul-Neumann, LM; von Moers, A; Schulze, I; Nicke, M; Bora, E; Cankaya, T; Oláh, É; Kiss, C; Bessenyei, B; Szakszon, K; Gruber-Sedlmayr, U; Kroisel, PM; Sodia, S; Goecke, TO; Dörk, T; Digweed, M; Sperling, K; de Sá, J; Lourenco, CM; Varon, R
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics. 2011; 12(4):273-282
Doi: 10.1007/s10048-011-0299-0
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Acham-Roschitz, B; Plecko, B; Lindbichler, F; Bittner, R; Mache, CJ; Sperl, W; Mayr, JA
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
Mol Genet Metab. 2009; 98(3):300-304
Doi: 10.1016/j.ymgme.2009.06.012
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Hochrainer, K; Kroismayr, R; Baranyi, U; Binder, BR; Lipp, J
Highly homologous HERC proteins localize to endosomes and exhibit specific interactions with hPLIC and Nm23B.
Cell Mol Life Sci. 2008; 65(13):2105-2117
Doi: 10.1007/s00018-008-8148-5
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Rohkamm, B; Reilly, MM; Lochmuller, H; Schlotter-Weigel, B; Barisic, N; Schols, L; Laura, M; Janecke, AR; Miltenberger-Miltenyi, G; John, E; Fischer, C; Grill, F; Wakeling, W; Davis, M; Pieber, TR; Auer-Grumbach, M; Nicholson, G; Pareyson, D
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
J NEUROL SCI. 2007; 263(1-2): 100-106.
Doi: 10.1016/j.jns.2007.06.047
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Filipits, M; Pohl, G; Stranzl, T; Kaufmann, H; Ackermann, J; Gisslinger, H; Greinix, H; Chott, A; Drach, J
Low p27Kip1 expression is an independent adverse prognostic factor in patients with multiple myeloma.
Clin Cancer Res. 2003; 9(2):820-826
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Spruck, CH; Strohmaier, H; Sangfelt, O; Müller, HM; Hubalek, M; Müller-Holzner, E; Marth, C; Widschwendter, M; Reed, SI
hCDC4 gene mutations in endometrial cancer.
Cancer Res. 2002; 62(16):4535-4539
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Jallepalli, PV; Waizenegger, IC; Bunz, F; Langer, S; Speicher, MR; Peters, JM; Kinzler, KW; Vogelstein, B; Lengauer, C
Securin is required for chromosomal stability in human cells.
Cell. 2001; 105(4):445-457
Doi: 10.1016/S0092-8674(01)00340-3
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Strohmaier, H; Spruck, CH; Kaiser, P; Won, KA; Sangfelt, O; Reed, SI
Human F-box protein hCdc4 targets cyclin E for proteolysis and is mutated in a breast cancer cell line.
Nature. 2001; 413(6853):316-322
Doi: 10.1038/35095076
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Madeo, F; Fröhlich, E; Ligr, M; Grey, M; Sigrist, SJ; Wolf, DH; Fröhlich, KU
Oxygen stress: a regulator of apoptosis in yeast.
J Cell Biol. 1999; 145(4):757-767
Doi: 10.1083/jcb.145.4.757
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Aguiar, RC; Sill, H; Goldman, JM; Cross, NC
The commonly deleted region at 9p21-22 in lymphoblastic leukemias spans at least 400 kb and includes p16 but not p15 or the IFN gene cluster.
Leukemia. 1997; 11(2):233-238
Doi: 10.1038/sj.leu.2400553
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Madeo, F; Fröhlich, E; Fröhlich, KU
A yeast mutant showing diagnostic markers of early and late apoptosis.
J Cell Biol. 1997; 139(3):729-734
Doi: 10.1083/jcb.139.3.729
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Sill, H; Aguiar, RC; Schmidt, H; Hochhaus, A; Goldman, JM; Cross, NC
Mutational analysis of the p15 and p16 genes in acute leukaemias.
BRIT J HAEMATOL. 1996; 92(3): 681-683.
Doi: 10.1046%2Fj.1365-2141.1996.340858.x
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