Surf One 96

SURF1 surfeit 1 SURF-1, Surfeit locus protein 1 Homo sapiens
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UniProt Q15526
OMIM 220110, 256000
NCBI Gene 6834
NCBI RefSeq NP_003163
NCBI RefSeq NM_003172
NCBI UniGene 6834


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One of the most common enzymatic defects in Leigh patients is cytochrome c [?] oxidase deficiency associated with recessive mutations in the SURF1 gene. [2008] A G
Two of the patients had as yet undefined defects, three patients had Surf-1 mutations, and one patient had a 15-base pair deletion in the COX III subunit. [2001] A G
Biogenesis of cytochrome c oxidase [?] (COX) relies on a large number of assembly proteins, one of them being Surf1. [2008] A G
The Surfeit gene cluster which contains at least four very tightly spaced unrelated genes, one of which encodes the ribosomal protein L7a, has been localized by an analysis of somatic cell hybrids to the long arm of chromosome 9. [1989] A G
Our finding of a surfeit of mutations within ATM may reflect the involvement of the gene at more than one step in tumorigenesis. [1998] A G
The release of IL-8 by monocytes was also stimulated by Surf [?]. Finally, median BALF IL-8 and MCP-1 [?] levels in PAP [?] patients were significantly higher than in controls (9.50 and 9.51 pg x mL(-1) in controls versus 151.95 and 563.70 pg x mL(-1) in PAP [?], respectively) and significantly correlated with SP-A concentrations in BALF. [2002] A G
The aim of this study was to assess whether SP-A or Surfactant (Surf [?]) from patients with pulmonary alveolar proteinosis (PAP [?]) can affect the release of two chemokines (interleukin (IL)-8 and monocyte chemtactic peptide (MCP)-1) from human monocytes and rat lung type-II cells. [2002] A G
The model predictions are compared with experimental measurements of the electrophoretic mobility of stealth liposomes with molecular weights of terminally anchored poly(ethylene glycol) (PEG) in the range 0.35-10 kg mol(-1) [J.A. Cohen and V.A. Khorosheva, Colloids Surf. A 195, 113 (2001)]. [2004] A G
A questionnaire was administered to 848 participants (76% runners, 24% walkers) at the conclusion of the 14 km City to Surf community run in order to investigate their experience of exercise-related transient abdominal pain (ETAP). [2005] A G
The adsorption of C16TAC on 1-dodecanethiol SAM (T. Imae, T. Takeshita, K. Yahagi, Stud. Surf. Sci. Catal. 132 (2001) 477) agrees with this mechanism. [2003] A G
The cmc increases with increase in acetamide concentration and the reported [M.S. Akhter, Colloids Surf. A 121 (1997) 103] decrease in cmc was not observed. [2008] A G
Loss-of-function mutations of SURF1 cause Leigh syndrome associated with an isolated and generalized COX deficiency in humans. [2003] A G
Leigh syndrome with cytochrome oxidase (COX) deficiency has been associated with SURF1 mutations. [2004] A G
We show that this technique reveals distinct patterns of both fully and partially assembled COX complexes and is thereby capable of discrimination between COX-deficient SURF-1 and non-SURF-1-mutated patients. [1999] A G
SURF1 encodes a factor involved in COX biogenesis. [2001] A G
Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. [2006] A G
Mutations in SURF1 have been described in several patients with Leigh syndrome associated with cytochrome c oxidase deficiency. [2001] A G
Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c [?] oxidase (COX) deficiency. [1999] A G
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C [?] oxidase deficiency. [2001] A G
The gene SURF1 encodes a factor involved in the biogenesis of cytochrome c [?] oxidase, the last complex in the respiratory chain. [2001] A G
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Missense mutations in SURF1 associated with deficient cytochrome c [?] oxidase assembly in Leigh syndrome patients. [2000] A G
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c [?] oxidase (COX)-deficient Leigh syndrome. [2003] A G
SURF1 mutations associated with cytochrome c [?] oxidase deficiency were identified in 8 (12.3%) families by DNA sequencing. [2006] A G
In this study, SURF1 mutations associated with cytochrome c [?] oxidase deficiency were identified in 8 (12.3%) out of 65 patients with Leigh syndrome. [2006] A G
SURF1 mutations associated with cytochrome-c [?] oxidase deficiency were identified in 25 patients (20.2%). [2007] A G
Mutations of SURF-1 in Leigh disease associated with cytochrome c [?] oxidase deficiency. [1998] A G
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c [?] oxidase deficiency. [1999] A G
Recent studies in white patients indicate that SURF-1 gene mutations can cause Leigh syndrome associated with cytochrome c [?] oxidase deficiency. [2002] A G
These results indicate that cultured lymphoblastoid cells are useful for elucidating the etiology of Leigh syndrome, and that loss of function of the SURF-1 gene product can be responsible for Leigh syndrome associated with severe cytochrome c [?] oxidase deficiency in Japanese patients. [2002] A G
Immunohistochemical studies suggested that SURF-1 mutations result in similarly reduced levels of mitochondrial-encoded and nuclear-encoded COX subunits, whereas SCO2 mutations affected mitochondrial-encoded subunits to a greater degree. [2000] A G
The Surf-1/Surf-2 promoter region contains four factor binding sites; members of the ETS family of transcription factors bind to two of these sites whilst YY1 binds to a third site immediately downstream of the major Surf-1 transcription start point. [1997] A G
The transcription initiation factor YY1 binds to the Su1 site and stimulates transcription in the direction of Surf-1 and, to a lesser extent, Surf-2. [1995] A G
A functional YY1 binding site is necessary and sufficient to activate Surf-1 promoter activity in response to serum growth factors. [1997] A G
Myc and YY1 mediate activation of the Surf-1 promoter in response to serum growth factors. [2000] A G
CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX [?] deficiency, such as mutations in SURF1. [2005] A G
These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease. [1998] A G
Rescue of the COX phenotype was observed in transfected cells from patients harboring SURF-1 mutations, but not in transfected cell lines from 2 patients in whom no mutations were detected by sequence analysis. [1999] A G
To investigate to what extent SURF-1 is responsible for human disorders because of COX deficiency, we undertook sequence analysis of the SURF-1 gene in 46 unrelated patients. [1999] A G
Mutations in SURF1, the human homologue of yeast SHY1, are responsible for Leigh's syndrome, a neuropathy associated with cytochrome oxidase (COX) deficiency. [2004] A G
Mutations in the homologous human gene (SURF1) have been reported to cause Leigh's syndrome, a neurological disease associated with COX deficiency. [2002] A G
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The three Surf-1 mutants and the COX III mutant each had reduced steady-state levels of subunits but variable associations of the residual subunits. [2001] A G
Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations with high-resolution respirometry. [2004] A G
COX activity could be restored in fibroblasts of the three patients by complementation with a retroviral vector containing normal SURF1 cDNA. [2000] A G
Surf1 [?], a factor involved in COX biogenesis, was recently reported as mutated in LS-COX- patients, all mutations predicting a truncated protein. [2000] A G
We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis. [1999] A G
(1998) found nine mutations in the surfeit 1 (SURF1) gene in LS families with COX deficiency. [1999] A G
Indeed, transfection of T737 C mutated SURF1 in SURF1-deficient cells did not restore normal SURF1 stability and COX activity. [2004] A G
Our findings suggest that altered calcium metabolism, apart from severe energy production failure, may also contribute to developing pathological conditions in patients with COX-deficient Leigh disease related to SURF-1 gene mutation. [2001] A G
These data confirm that the spectrum of MRI findings in LS is variable and that SURF1 mutations should be considered in patients with encephalomyopathy and COX deficiency even when early MRI findings are negative. [2004] A G
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. [2003] A G
MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations. [2003] A G
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. [2002] A G
This review summarizes recent developments, including our efforts in elucidation of the molecular basis of human mitochondrial diseases due to specific defects of COX with special focus on SURF1 assembly protein. [2004] A G
We conclude that, although mtDNA mutations are considered to be rare in LS with COX deficiency, the T 5537i mutation should be screened for in cases of LS with COX deficiency when SURF1 gene mutations have been excluded, especially when complex I activity is also decreased. [2003] A G
SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. [2001] A G
None of these constructs, expressed into SURF-1 null mutant cells, were able to rescue the COX phenotype, suggesting that different regions of the protein are all essential for function. [1999] A G
Finally, experiments based on 2D gel electrophoresis indicated that assembly of COX in SURF-1 null mutants is blocked at an early step, most likely before the incorporation of subunit II in the nascent intermediates composed of subunit I alone or subunit I plus subunit IV. [1999] A G
The authors have identified four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of LS with COX deficiency. [2003] A G
We conclude that the absence of the Surf1 protein leads to the formation of incomplete COX complexes, which in situ maintain rather high electron-transport activity, while their H(+)-pumping is impaired. [2003] A G
Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. [2001] A G
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Immunoblot analysis of mitochondrial fractions with nine subunit specific monoclonal antibodies revealed that in most patients, including in a patient with a novel mutation in the SURF1 gene, steady-state levels of all investigated COX subunits were decreased. [1999] A G
We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency. [2006] A G
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. [2000] A G
A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis. [2001] A G
We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. [2001] A G
Mutations of SURF-1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c [?] oxidase (COX), the terminal component of the mitochondrial respiratory chain. [1999] A G
Mutations in SURF1, a gene involved in cytochrome-c [?] oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS). [2004] A G
Mutations in SURF1 have been shown to be an important cause of LS with cytochrome c [?] oxidase (COX) deficiency. [2003] A G
Subacute necrotising encephalomyopathy (Leigh syndrome) due to cytochrome c [?] oxidase (COX) deficiency is often caused by mutations in the SURF1 gene, encoding the Surf1 protein essential for COX assembly. [2003] A G
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c [?] oxidase deficiency. [1999] A G
Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c [?] oxidase deficiency. [2005] A G
Unusual clinical presentations in four cases of Leigh disease, cytochrome C [?] oxidase deficiency, and SURF1 gene mutations. [2005] A G
Maternal segmental disomy in Leigh syndrome with cytochrome c [?] oxidase deficiency caused by homozygous SURF1 mutation. [2006] A G
SURF1, encoding a factor involved in the biogenesis of cytochrome c [?] oxidase, is mutated in Leigh syndrome. [1998] A G
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c [?] oxidase deficiency. [1999] A G
Mutations of the SURF1 gene result in Leigh syndrome and severe cytochrome c [?] oxidase deficiency. [2001] A G
Our studies confirm that the SURF1 gene is an important nuclear gene involved in the cytochrome c [?] oxidase deficiency. [2001] A G
Analysis of seven unrelated patients with cytochrome c [?] oxidase deficiency and typical Leigh syndrome revealed different SURF1 mutations in four of them. [2001] A G
Decreased affinity for oxygen of cytochrome-c [?] oxidase in Leigh syndrome caused by SURF1 mutations. [2004] A G
Mutations in the gene SURF1 prevent synthesis of cytochrome-c [?] oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. [2004] A G
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A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c [?] oxidase deficiency. [2002] A G
Our data further enlarge the spectrum of mutations in SURF1 gene in patients with Leigh disease and cytochrome-c [?] oxidase deficiency, contributing to better characterization of the clinical and neuroradiologic features of this group of patients for genotype-phenotype correlations. [2002] A G
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c [?] oxidase deficiency. [2003] A G
Functional alteration of cytochrome c [?] oxidase by SURF1 mutations in Leigh syndrome. [2003] A G
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c [?] oxidase deficiency. [1999] A G
Three novel mutations of the SURF-1 gene were identified in two of these three patients with cytochrome c [?] oxidase deficiency. [2002] A G
All mutations predicted loss of function of the SURF-1 protein; in both patients' cells, cytochrome c [?] oxidase activity was decreased to less than 20% of the control mean. [2002] A G
Loss-of-function mutations in SURF-1, a gene belonging to the third category, have been associated with Leigh syndrome with cytochrome c [?] oxidase deficiency. [1999] A G
Leigh syndrome associated with cytochrome c oxidase (COX [?]) deficiency is a mitochondrial disorder usually caused by mutations of SURF1, a gene encoding a putative COX [?] assembly factor. [2007] A G
Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX [?]), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX [?] deficiency. [2006] A G
COX [?] deficiency was induced using morpholinos to reduce expression of CoxVa, a structural subunit, and Surf1, an assembly factor, both of which impaired COX [?] assembly. [2007] A G
These results indicate important functions for SURF1 specifically related to COX [?] activity and suggest a crucial role of mitochondrial energy pathways in organogenesis and CNS development and function. [2006] A G
Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX [?] deficiency. [2006] A G
Severe COX [?] deficiency in muscle was caused by a novel homozygous nonsense mutation in SURF1. [2006] A G
Most of these LS (COX [?]-) patients show mutations in SURF1 on chromosome 9 (9q34), which encodes a protein essential for the assembly of the COX [?] complex. [2006] A G
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. [2000] A G
The Surf-1/Surf-2 bi-directional promoter contains binding sites for at least three transcription factors (Su1, Su2, and Su3). [1992] A G
Gel retardation assays showed that the cloned factor binds specifically to the Su2 factor binding site present in the human Surf-1/Surf-2 promoter but not to an Su2 site containing mutated base pairs. [1992] A G
Another has sequence homology to the RPG alpha binding site associated with some ribosomal protein gene promoters and is required for efficient expression of the major but not intermediate start sites of Surf-1 [?] and all start sites of Surf-2 [?]. [1991] A G
Here we show that in transient transfection assays, transcription in both the Surf-1 and the Surf-2 direction is severely reduced by CpG methylation. [1995] A G
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Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. [2005] A G
The addition of serum growth factors to serum-starved cells activates transcription in the Surf-1 direction, but has no effect on transcription in the Surf-2 direction. [2000] A G
Marked prevalence of two nuclear DNA mutations (845-846delCT in the SURF1 gene and 1541G>A in the SCO2 gene) associated with COX [?] deficiency in a Slavonic population suggests the existence of regional differences in the genetic basis of COX [?] deficiency. [2006] A G
Cytochrome c [?] oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. [2004] A G
CpG methylation and the binding of YY1 and ETS proteins to the Surf-1/Surf-2 bidirectional promoter. [1995] A G
Finally, the consequences of SCO2 and SURF1 mutations suggest the existence of tissue-specific functional differences of these proteins that may serve different tissue-specific requirements for the regulation of COX [?] biogenesis. [2005] A G
We have analysed the assembly state of COX [?] and SCO2 protein levels in various tissues of six patients with mutations in SCO2 and SURF1. [2005] A G
We show that although the Surf-1/Surf-2 promoter does not contain Myc binding sites (E-boxes), Myc over-expression, or the activation of a Myc-oestrogen receptor fusion protein, activates transcription in the Surf-1 direction and that this response to Myc requires a functional YY1 binding site. [2000] A G
CpG methylation has differential effects on the binding of YY1 [?] and ETS proteins to the bi-directional promoter of the Surf-1 [?] and Surf-2 [?] genes. [1995] A G
Immunoblot analysis of native gels demonstrated that COX [?] holoenzyme is reduced to 10-20% in skeletal muscle and brain of SCO2 and SURF1 patients and to 10-30% in heart of SCO2 patients, whereas liver of SCO2 patients' contained normal holoenzyme levels. [2005] A G
In patients with SCO2 mutations, onset was earlier and the clinical course and progression to death more rapid than in patients with SURF-1 mutations. [2000] A G
Using a mouse Surfeit locus probe, a 16 kb clone has been isolated which contains the human Surf-1 and Surf-3 genes and regions of the human Surf-2 and Surf-5 genes. [1993] A G
The three genes indicted, SURF1 for Leigh syndrome, COX 10 for leukodystrophy and tubulopathy, and SCO2 for the cardiomyopathic form, all have a role in the assembly of the mature cytochrome oxidase complex. [2000] A G
Mutations can be found in the complex IV assembly genes, such as the SURF-1 gene and the SCO2 gene. [2000] A G
The YY1 binding site is, however, both necessary and sufficient to confer growth factor inducibility on transcription in the Surf-1 direction. [1997] A G
Mutations that block the binding of YY1 to a site immediately downstream of the major Surf-1 transcription start point abolish this response to serum factors. [2000] A G
All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome. [2000] A G
Two of the most common clinical presentations, Leigh Syndrome and hypertrophic cardiomyopathy, have so far only been associated with mutations in SURF1 or SCO2 and COX15, respectively. [2003] A G
The organization of the human Surfeit locus containing the six sequence-unrelated housekeeping genes Surf-1 to Surf-6 (HGMW-approved symbols SURF1-SURF6) has been determined. [1998] A G
Isolation and genomic analysis of the human surf-6 gene: a member of the Surfeit locus [?]. [2000] A G
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Cloning and expression of the surfeit locus [?] member Surf-6 [?] during embryogenesis in Xenopus laevis. [2002] A G
A disease-specific humoral immune response against SURF1, LOC146223, HOOK2 or AGENCOURT_7565913 was observed in most patients with esophageal squamous cell carcinoma. [2005] A G
The sero-positive rates of antibodies against SURF1 (48%), LOC146223 (38%), HOOK2 (14%) and AGENCOURT_7565913 (14%) were significantly higher in esophageal cancer patients than in healthy controls. [2005] A G
We studied fibroblast cultures from patients carrying mutations in the assembly factors COX10, SCO1, or SURF1. [2004] A G
The distance between the 3' ends of the human Surf-1 and Surf-3 genes is 374 bp, and the distance between the 5' ends of the human Surf-3 and Surf-5 genes is only 112 bp. [1998] A G
Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. [2001] A G
The SURF1 is a short interspersed repetitive element identified from the sea urchin Strongylocentrotus purpuratus, and is reported to be transcribed by RNA polymerase III. [1997] A G
Intriguingly, the various SURF1-deficient samples analyzed showed a tissue-specific copper deficiency similar to that of SCO-deficient samples, suggesting a role for Surf1 in copper homeostasis regulation. [2009] A G
The identified cDNA clones were SURF1, HOOK2, CENP-F, ZIC2, hCLA-iso, Ki-1/57, enigma, HCA25a, SPK [?] and two EST [?] clones named LOC146223 and AGENCOURT_7565913. [2005] A G
Mitochondrial respiratory chain dysfunction has been reported in association with primary mitochondrial DNA abnormalities, and also as a consequence of mutations in nuclear genes directly involved in mitochondrial functions, such as SURF1, frataxin, and paraplegin. [2000] A G
We reviewed the clinical history of all patients and used muscle biopsies in order to perform molecular, biochemical and genetic investigations, including sequencing the entire mitochondrial DNA (mtDNA), the mitochondrial DNA polymerase (POLGA [?]) gene and the surfeit locus protein 1 (SURF1) gene. [2009] A G
Here we show that over-expression of mitogen-activated protein (MAP) kinase phosphatase MKP-1, an inhibitor of the MAP kinase cascade, also blocks the response the Surf-1 promoter to serum factors. [2000] A G
The human Surf-1 and Surf-2 housekeeping genes are divergently transcribed and share a bi-directional, TATA-less promoter. [1997] A G
Here we show that CpG methylation severely reduces transcription in the direction of both Surf-1 [?] and Surf-2 [?]. [1995] A G
The divergently transcribed Surf-1 [?] and Surf-2 [?] housekeeping genes are separated by a bi-directional, TATA-less promoter which lies within a CpG-rich island. [1995] A G
The third, an RPG alpha-like site, is used for all start sites of both Surf-1 [?] and Surf-2 [?]. [1991] A G
Three elements function in a bidirectional manner and are shared for efficient and accurate expression of both Surf-1 [?] and Surf-2 [?]. [1991] A G
The effects of each site on the regulation of Surf-1 [?] and Surf-2 [?] transcription have been studied in vivo, and four sites were found to be functional promoter elements. [1991] A G
By using in vitro DNase I, dimethyl sulfate methylation, and gel retardation assays, we have identified five putative promoter control elements between and around the Surf-1 [?] and Surf-2 [?] start sites. [1991] A G
The divergently transcribed Surf-1 and Surf-2 genes are separated by a bi-directional, TATA-less promoter which contains three important factor-binding sites, Su1, Su2 and Su3. [1995] A G
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Human Surf-1 and Surf-2 cDNAs have been cloned and sequenced. [1994] A G
The putative human Surf-1 and Surf-2 proteins are 77% and 69% identical to the corresponding mouse proteins. [1994] A G
Here we report the isolation and characterization of the human Surf-1 and Surf-2 genes and their intergenic region. [1994] A G
The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. [1994] A G
In the mouse, the heterogeneous transcription start sites of the divergent Surf-1 and Surf-2 genes are separated by a maximum of only 73 bp (Williams and Fried, 1986). [1994] A G
This region contains a bidirectional promoter composed of three major factor binding sites required for the efficient expression of both the Surf-1 and Surf-2 genes (Lennard and Fried, 1991). [1994] A G
Although the major Surf-1 and Surf-2 transcription start sites are separated by 97 bp in the human and there are multiple differences in the mouse and human sequence between and around the transcriptional start sites, there is high conservation of the sequence specifying the three major factor binding sites of the bidirectional promoter. [1994] A G
The human Surf-1 and Surf-2 genes are divergently transcribed and share a single bi-directional promoter. [2000] A G
This allows us to determine the orientation of the Surfeit and ABO loci with respect to each other and to the telomere and centromere of human chromosome 9. [1998] A G
These results indicate a function for murine Surf1 [?] protein (Surf1 [?]p) specifically related to COX and recapitulate, at least in part, the human phenotype. [2003] A G
Constitutive knockout of Surf1 [?] is associated with high embryonic lethality, mitochondrial disease and cytochrome c [?] oxidase deficiency in mice. [2003] A G
Sequence conservation from human to prokaryotes of Surf1 [?], a protein involved in cytochrome c [?] oxidase assembly, deficient in Leigh syndrome. [1999] A G
Mutations in Surf1 [?], a human gene involved in the assembly of cytochrome c oxidase (COX [?]), cause Leigh syndrome, the most common infantile mitochondrial encephalopathy, characterized by a specific COX [?] deficiency. [2006] A G
In mouse, the Surf-1 [?]/Surf-2 [?] promoter contains three important factor binding sites: Su1, Su2, and Su3. [1994] A G
YY1 is involved in the regulation of the bi-directional promoter of the Surf-1 [?] and Surf-2 [?] genes. [1994] A G
Here, Fugu gene homologs of all six Surfeit [?] genes (Surf-1 [?] to Surf-6 [?]) have been cloned and sequenced, and their gene structure has been compared with that of their mammalian and avian homologs. [1997] A G
We have previously shown that the divergently transcribed Surf-1 [?] and Surf-2 [?] genes are separated by a bi-directional, TATA-less promoter. [1994] A G
These sites are conserved between the mouse and human Surf-1/Surf-2 promoters, bind nuclear factors in vitro, and are required for accurate and efficient expression of Surf-1 [?] and Surf-2 [?] in vivo. [1994] A G
The measured catalytic activity of cytochrome c [?] oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c [?] oxidase deficiency No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. [2001] A G
In this construction the renin system primarily defends sodium balance and blood pressure, with the atrial hormone having an increasing counter-influence in situations involving high blood pressure or sodium surfeit. [1985] A G
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In this construction the renin [?] system acts primarily to defend sodium balance and blood pressure, with the atrial hormone playing an increasingly active counterpart in situations involving sodium-volume surfeit [?] and/or high blood pressure. [1986] A G
In this endocrine control, the renin axis provides the primary defence against sodium volume depletion and hypotension while atrial hormone plays an increasingly active counter-role for coping with situations that involve a sodium-volume surfeit or rising blood volume or blood pressure levels. [1986] A G
These results demonstrate for the first time in any species that the acid excretory effect of GH administration is critically dependent on the availability of a surfeit of Na(+) for tubular reabsorption. [2000] A G
The recent production of GH by recombinant DNA technology has provided a potential surfeit of this hormone and raises the possibility of its use in other conditions. [1986] A G
Across all ages, the mean UFA showed a statistically significant deficit for SGA children (-0.27 +/- 0.10 SDU) and surfeit for LGA children (0.24 +/- 0.08 SDU). [1998] A G
For infants and young children born LGA, there was a surfeit in muscularity of approximately 0.45 SDU, with less of a surfeit in fatness, particularly at the youngest ages. [1998] A G
Inasmuch as bone resorption processes can be modulated by Ca2+ and cAMP the data presented herein suggest that the altered bone resorptive response to calciotropic hormones (e.g. PTH), under surfeit or deficit of phosphate, is mediated by changes in [Ca2+]in and cAMP. [1991] A G
The ABO blood group locus, the Surfeit gene cluster, the dopamine beta-hydroxylase gene (DBH) and VAV2, a homologue of the vav oncogene, have all been mapped within the contigs. [1995] A G
A surfeit of RAD51-like genes? [1999] A G
The brief surfeit [?] of MYC activity was accompanied by evidence of genomic instability, including karyotypic abnormalities, gene amplification, and hypersensitivity to DNA-damaging agents. [1999] A G
Increased insulin (and leptin as well) locally within the brain complements other signals that indicate a surfeit of energy in the body, including satiety signals generated by the gut during meals, glucose, and some fatty acids. [2006] A G
NAFLD encompasses a wide spectrum of hepatic derangements ranging from a surfeit of fat in the liver (steatosis) to lipid surplus accompanied by fibrosis and cellular death (nonalcoholic steatohepatitis or NASH). [2008] A G
In normal and GD thyroids, basolateral staining with T3-495 was generally more intense than with A10, suggesting a possible surfeit of MSR over ECD. [2002]