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Keywords: mutation
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Biochem J (2022) 479 (13): 1441–1454.
Published: 13 July 2022
... is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2 may play a role in brain development and function. During the screening of a clinical exome sequencing database, nine SIM2 non-synonymous mutations were found which were subsequently...
Includes: Supplementary data
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Biochem J (2022) 479 (5): 661–675.
Published: 04 March 2022
... is a Cullin3-dependent E3 ligase that mediates the ubiquitin-dependent degradation of kinases WNK1–4 to control blood pressure and cell volume. A crystal structure of KLHL3 has defined its binding to an acidic degron motif containing a PXXP sequence that is strictly conserved in WNK1, WNK2 and WNK4. Mutations...
Includes: Supplementary data
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Biochem J (2020) 477 (21): 4085–4132.
Published: 05 November 2020
... are a heterogenous group of conditions affecting OXPHOS, either directly through mutation of genes encoding subunits of OXPHOS complexes, or indirectly through mutations in genes encoding proteins supporting this process. These include proteins that promote assembly of the OXPHOS complexes, the post-translational...
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Biochem J (2020) 477 (15): 2873–2874.
Published: 12 August 2020
... as a precision medicine model of mild Mahvash disease, a rare hereditary pancreatic neuroendocrine tumor syndrome characterized by inactivating mutations in the glucagon receptor. Further characterization of pancreas morphology and histology in the Gcgr V369M+/+ mice at more advanced ages will be critically...
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Biochem J (2016) 473 (24): 4593–4607.
Published: 09 December 2016
...Marta Mikolajczak; Timothy Goodman; Mohammad K. Hajihosseini Heterozygous mutations in the gene encoding fibroblast growth factor 10 (FGF10) or its cognate receptor, FGF-receptor 2 IIIb result in two human syndromes — LADD (lacrimo-auriculo-dento-digital) and ALSG (aplasia of lacrimal and salivary...
Includes: Supplementary data
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Biochem J (2015) 466 (3): 613–624.
Published: 06 March 2015
...David C.A. Gaboriau; Pamela J.E. Rowling; Ciaran G. Morrison; Laura S. Itzhaki Mutations in breast cancer susceptibility gene BRCA1 (breast cancer early-onset 1) are associated with increased risk of developing breast and ovarian cancers. BRCA1 is a large protein of 1863 residues with two small...
Includes: Supplementary data
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Biochem J (2015) 465 (2): 195–211.
Published: 06 January 2015
...Fiona P. Bailey; Dominic P. Byrne; Daniel McSkimming; Natarajan Kannan; Patrick A. Eyers Protein phosphorylation lies at the heart of cell signalling, and somatic mutation(s) in kinases drives and sustains a multitude of human diseases, including cancer. The human protein kinase superfamily...
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Biochem J (2014) 457 (3): 441–449.
Published: 10 January 2014
...Tao Huang; Qing Shao; Kevin Barr; Jamie Simek; Glenn I. Fishman; Dale W. Laird To date, over 65 mutations in the gene encoding Cx43 (connexin43) have been linked to the autosomal-dominant disease ODDD (oculodentodigital dysplasia). A subset of these patients experience bladder incontinence which...
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Biochem J (2011) 436 (3): 599–607.
Published: 27 May 2011
... is limited by the reduced accuracy of lentiviral RTs compared with oncoretroviral RTs (i.e. MLV RT). The effects of the mutations K65R, R78A and K65R/V75I on the fidelity of HIV-1 group O RTs were studied using gel-based and M13mp2 lacZ forward-mutation fidelity assays. Forward-mutation assays demonstrated...
Includes: Supplementary data
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Biochem J (2009) 424 (3): 385–398.
Published: 10 December 2009
...Darren Locke; Shengjie Bian; Hong Li; Andrew L. Harris Gap junctions play important roles in auditory function and skin biology; mutations in the Cx26 (connexin26) gene are the predominant cause of inherited non-syndromic deafness and cause disfiguring skin disorders. Mass spectrometry (MS...
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Biochem J (2007) 405 (1): 181–189.
Published: 13 June 2007
...-maximal displacement by cAMP at 2.6 and 167 μM). Introduction of a mutation (T421A) in a motif predicted to be important for cyclic nucleotide binding decreased the higher affinity binding of cAMP to 9.2 μM. The anti-CFTR antibody (MPNB) that inhibits CFTR-mediated protein secretion also inhibited cAMP...
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Biochem J (2005) 390 (2): 447–453.
Published: 23 August 2005
... the cytoprotection by glycine. Furthermore, the mutation of Tyr 202 to phenylalanine in GlyRα1 blocked the glycine-mediated cytoprotection, while the mutation of Tyr 202 to leucine abolished the cytoprotection by strychnine. Our results suggested that the cytoprotection of glycine against ATP-depletion-induced...
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Biochem J (2005) 386 (1): 153–160.
Published: 08 February 2005
... completely inactive. Mutations of the five potential N-glycosylation sites individually and in combination showed that these sites were all glycosylated and deficient glycosylation decreased the enzyme activity. Immunogold labelling showed that the wild-type enzyme was mainly located in the plasma membrane...
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Biochem J (2003) 369 (3): 563–571.
Published: 01 February 2003
...). The formation of a salt bridge between Ile 153 and Asp 343 drives the conversion of FVIIa from being zymogen-like to the active form. In the present paper, we describe the novel FVII mutant V154G (Val 154 →Gly mutation; residue 17 in the chymotrypsin numbering system), found in three FVII-deficient patients...
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Biochem J (2001) 357 (3): 661–672.
Published: 25 July 2001
...-fold without increasing the mRNA abundance of APOBEC-1. The elimination of potential phosphorylation sites 47 and 72 of human APOBEC-1 decreased its activity to approx. one-eighth of control levels by a Ser 47 → Ala mutation, but more than doubled the activity by a Ser 72 → Ala mutation. The activity...
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Biochem J (2001) 355 (3): 779–785.
Published: 24 April 2001
...-terminus of rPLD 1 . RhoA also associated with this peptide in a GTP-dependent manner in COS-7 cell lysates and the peptide inhibited RhoA stimulation of PLD activity in membranes from COS-7 cells expressing rPLD 1 . A series of alanine mutations of non-conserved residues were made in this sequence...
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Biochem J (1999) 343 (3): 681–685.
Published: 25 October 1999
... properties of the protein are significantly altered. Equilibrium and kinetic data show that the R-state properties of the protein are essentially unaffected by the mutation whilst the allosteric equilibrium and T-state properties are changed. Mutation of the naturally occurring Gln 38 of the human embryonic...
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Biochem J (1999) 340 (3): 621–630.
Published: 08 June 1999
... genetic instability mutation transformation Biochem. J. (1999) 340, 621 630 (Printed in Great Britain) 621 How aneuploidy affects metabolic control and causes cancer David RASNICK1 and Peter H. DUESBERG Department of Molecular and Cell Biology, 229 Stanley Hall, University of California Berkeley...
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