Blood coagulation
... with malabsorption of vitamin K can lead to deficient carboxylation of the vitamin-K-dependent coagulation proteins. In severe cases, this process results in an increased bleeding tendency. However, a more common disorder is deficiency of vitamin K due to excessive intake of antagonists, for exampl ...
... with malabsorption of vitamin K can lead to deficient carboxylation of the vitamin-K-dependent coagulation proteins. In severe cases, this process results in an increased bleeding tendency. However, a more common disorder is deficiency of vitamin K due to excessive intake of antagonists, for exampl ...
Gene Section PAX8 (paired box 8) Atlas of Genetics and Cytogenetics
... The mutant proteins have markedly reduced DNA binding with subsequent loss of transcriptional activation function. The mutations are thought to disrupt the pronounced gain of alpha helical PAX8 content that follows the interaction of PAX8 with DNA: they impair the unstructured to structured transiti ...
... The mutant proteins have markedly reduced DNA binding with subsequent loss of transcriptional activation function. The mutations are thought to disrupt the pronounced gain of alpha helical PAX8 content that follows the interaction of PAX8 with DNA: they impair the unstructured to structured transiti ...
Application of the new manP counter-selection system for B. subtilis
... integration of the plasmid into the chromosome of B. subtilis by single cross-over was ...
... integration of the plasmid into the chromosome of B. subtilis by single cross-over was ...
IGA 8/e Chapter 2
... during metaphase of mitosis is 13 m. What is the average packing ratio of DNA at metaphase? (Packing ratio = length of chromosome/length of DNA molecule therein.) How is this packing achieved? Answer: There is a total of 4 m of DNA and nine chromosomes per haploid set. On average, each is 4/9 m lon ...
... during metaphase of mitosis is 13 m. What is the average packing ratio of DNA at metaphase? (Packing ratio = length of chromosome/length of DNA molecule therein.) How is this packing achieved? Answer: There is a total of 4 m of DNA and nine chromosomes per haploid set. On average, each is 4/9 m lon ...
Tumour necrosis factor and lymphotoxin A progression? EDITORIAL
... why it is important to publish (negative) studies like that of TANAKA et al. [1]. There may be an unjustified bias towards lack of publication of negative findings, and moreover it is necessary to discover that previously reported findings are unjustly called positive. Presumably, reviewers and jour ...
... why it is important to publish (negative) studies like that of TANAKA et al. [1]. There may be an unjustified bias towards lack of publication of negative findings, and moreover it is necessary to discover that previously reported findings are unjustly called positive. Presumably, reviewers and jour ...
Charcot-Marie-Tooth and Related Diseases
... In many people with CMT, sensory loss is associated with dry skin and hair loss in the affected area. In rare cases, sensory loss can include gradual hearing impairment and sometimes deafness. Watching out for these potential problems will enable you to seek appropriate treatment if necessary. ...
... In many people with CMT, sensory loss is associated with dry skin and hair loss in the affected area. In rare cases, sensory loss can include gradual hearing impairment and sometimes deafness. Watching out for these potential problems will enable you to seek appropriate treatment if necessary. ...
Gene Section MLL (myeloid/lymphoid or
... Prognosis The prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary ANLL cases. Cytogenetics May be overlooked; often as a sole anomaly. Hybrid/Mutated gene Variable breakpoints on both genes. Abnormal protein N-term -- AT hook and DNA methyltra ...
... Prognosis The prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary ANLL cases. Cytogenetics May be overlooked; often as a sole anomaly. Hybrid/Mutated gene Variable breakpoints on both genes. Abnormal protein N-term -- AT hook and DNA methyltra ...
Inverse correlation between SMN1 and SMN2 copy numbers
... Most carriers of autosomal recessive spinal muscular atrophy (SMA) have only one copy of SMN1 because of SMN1 gene deletions or gene conversions from SMN1 to SMN2, which has only one base difference in coding sequence from SMN1. Using SMN gene dosage analysis, we determined the copy numbers of SMN1 ...
... Most carriers of autosomal recessive spinal muscular atrophy (SMA) have only one copy of SMN1 because of SMN1 gene deletions or gene conversions from SMN1 to SMN2, which has only one base difference in coding sequence from SMN1. Using SMN gene dosage analysis, we determined the copy numbers of SMN1 ...
RET Proto-Oncogene
... stimulated plasma CT levels. Unfortunately, CT is not always an accurate marker of MTC because levels of this hormone may also be elevated in patients with C-cell hyperplasia and in patients without MTC who have normal thyroid glands (15,16). HPT in MEN 2A may be caused by a single adenoma or diffus ...
... stimulated plasma CT levels. Unfortunately, CT is not always an accurate marker of MTC because levels of this hormone may also be elevated in patients with C-cell hyperplasia and in patients without MTC who have normal thyroid glands (15,16). HPT in MEN 2A may be caused by a single adenoma or diffus ...
Manuscript - Imperial Spiral
... core of proteins that includes: (1) one or several proteins, besides the major pilin, with an Nterminal pilin-like motif that might slightly differ from the above consensus, (2) a specific peptidase that processes the prepilins and prepilin-like proteins, (3) a traffic ATPase that powers Tfp assemb ...
... core of proteins that includes: (1) one or several proteins, besides the major pilin, with an Nterminal pilin-like motif that might slightly differ from the above consensus, (2) a specific peptidase that processes the prepilins and prepilin-like proteins, (3) a traffic ATPase that powers Tfp assemb ...
Genetic Polymorphism of Human CYP2E1
... with either of the three different cDNAs (Fig. 4, A and B). The level of CYP2E1 apoprotein in cells transfected with CYP2E1*2 cDNA was approximately 37% of that obtained in cells transfected with CYP2E1*1 cDNA (Fig. 4C). When 6-hydroxylation of chlorzoxazone was measured in the cell homogenates, a s ...
... with either of the three different cDNAs (Fig. 4, A and B). The level of CYP2E1 apoprotein in cells transfected with CYP2E1*2 cDNA was approximately 37% of that obtained in cells transfected with CYP2E1*1 cDNA (Fig. 4C). When 6-hydroxylation of chlorzoxazone was measured in the cell homogenates, a s ...
Exome sequencing as a tool for Mendelian disease gene discovery
... largely been limited to assessing rare variants that have been found by the targeted sequencing of candidate genes or of genomic regions identified by linkage or genome-wide association studies (GWASs): the assumption is that rare variants that influence a trait colocalize with common variants that ...
... largely been limited to assessing rare variants that have been found by the targeted sequencing of candidate genes or of genomic regions identified by linkage or genome-wide association studies (GWASs): the assumption is that rare variants that influence a trait colocalize with common variants that ...
Detailed Algorithm of the DBRF
... divided into “independent groups” as follows. An essential unexplained edge is moved to a new independent group. An essential unexplained edge that explains or is explained by edges in the independent group is moved to the independent group. The process is repeated until no edge is moved to the inde ...
... divided into “independent groups” as follows. An essential unexplained edge is moved to a new independent group. An essential unexplained edge that explains or is explained by edges in the independent group is moved to the independent group. The process is repeated until no edge is moved to the inde ...
Gene Section ALDOB (aldolase B, fructose-bisphosphate) Atlas of Genetics and Cytogenetics
... Tolan DR. Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose1,6-bisphosphate aldolase. J Biol Chem. 2003 May ...
... Tolan DR. Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose1,6-bisphosphate aldolase. J Biol Chem. 2003 May ...
Using high-resolution variant frequencies to empower
... least one ExAC population, and were therefore re-curated. 42 of these had no segregation or functional data sufficient to demonstrate pathogenicity in the heterozygous state, and we would classify as VUS at most. The remaining variant (MYBPC3:c.3330+5G>C) had convincing evidence of pathogenicity, th ...
... least one ExAC population, and were therefore re-curated. 42 of these had no segregation or functional data sufficient to demonstrate pathogenicity in the heterozygous state, and we would classify as VUS at most. The remaining variant (MYBPC3:c.3330+5G>C) had convincing evidence of pathogenicity, th ...
Genetics of host response in leprosy
... complex, might be influenced by HLA haplotypes. This can reflect the amount of IFNg production upon M. leprae stimulation and it is historically accepted that HLA is involved in differential development of leprosy clinical forms.14 HLA molecules are cell surface glycoproteins divided into two groups ...
... complex, might be influenced by HLA haplotypes. This can reflect the amount of IFNg production upon M. leprae stimulation and it is historically accepted that HLA is involved in differential development of leprosy clinical forms.14 HLA molecules are cell surface glycoproteins divided into two groups ...
Chapter 1
... See decrease in hemoglobin, hematocrit, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH). See normal to slightly decreased Mean Corpuscular Hemoglobin Concentration (MCHC). Will see microcytic, hypochromic pattern. Have normal or elevated RBC count with a normal red ...
... See decrease in hemoglobin, hematocrit, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH). See normal to slightly decreased Mean Corpuscular Hemoglobin Concentration (MCHC). Will see microcytic, hypochromic pattern. Have normal or elevated RBC count with a normal red ...
The Isolation of Mutagen-Sensitive nuv Mutants of
... alkylating agent MNNG and/or UV-irradiation (designated nuu mutants). Of these, 23 were selected for further characterization. All were markedly hypersensitive to both MNNG and the quasi-UVmimetic mutagen 4-NQO. The hypersensitive phenotype of each mutant was shown to result from mutation of a singl ...
... alkylating agent MNNG and/or UV-irradiation (designated nuu mutants). Of these, 23 were selected for further characterization. All were markedly hypersensitive to both MNNG and the quasi-UVmimetic mutagen 4-NQO. The hypersensitive phenotype of each mutant was shown to result from mutation of a singl ...
DAUBE_1996_Am-J-Vet-Res_496
... are responsible for necrotic enteritis in young animals of most species and in human beings, in which enterotoxigenic type-C isolates are involved.8 Type-D isolates, producing α- and ε-toxins, cause enterotoxemia, especially in small ruminants, but this type also has been described in other species. ...
... are responsible for necrotic enteritis in young animals of most species and in human beings, in which enterotoxigenic type-C isolates are involved.8 Type-D isolates, producing α- and ε-toxins, cause enterotoxemia, especially in small ruminants, but this type also has been described in other species. ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... hyperhomocysteinemia, which induces platelet aggregation through promotion of endothelial oxidative damage [8]. Although several mutations within the MTHFR gene were described, C677T and A1298C mutations are the two most common mutations .C677T transition is a missense mutation in the exon 4 of this ...
... hyperhomocysteinemia, which induces platelet aggregation through promotion of endothelial oxidative damage [8]. Although several mutations within the MTHFR gene were described, C677T and A1298C mutations are the two most common mutations .C677T transition is a missense mutation in the exon 4 of this ...
Note for Guidance on the Quality, Preclinical and Clinical
... The design of the gene transfer product forms an integral part of the rationale for the development of a gene transfer medicinal product. Information relating to the suitability of the vector system and of the delivery system should be provided. Data on the control and stability of gene expression s ...
... The design of the gene transfer product forms an integral part of the rationale for the development of a gene transfer medicinal product. Information relating to the suitability of the vector system and of the delivery system should be provided. Data on the control and stability of gene expression s ...
The Coat of Many Colors
... inserted into the merle gene contains a long string of “A’s” that “turn off” the SILV gene so that it cannot produce the SILV protein helping to form melanosomes. It turns out that mutations occur in this string of “A’s”quite often as cells divide, decreasing the string’s length. The result is that ...
... inserted into the merle gene contains a long string of “A’s” that “turn off” the SILV gene so that it cannot produce the SILV protein helping to form melanosomes. It turns out that mutations occur in this string of “A’s”quite often as cells divide, decreasing the string’s length. The result is that ...
Gene Name
... nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required fo ...
... nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required fo ...
שקופית 1
... formation of conformational-sensitive epitopes and the activation of the cognate receptor). However, this domain is missing the set of Olinked glycans and lacks the hallmark function of prolonging the circulatory survival and determinants for apical secretion which are typical to the naturally expre ...
... formation of conformational-sensitive epitopes and the activation of the cognate receptor). However, this domain is missing the set of Olinked glycans and lacks the hallmark function of prolonging the circulatory survival and determinants for apical secretion which are typical to the naturally expre ...
Cloning and Expression of Cellulosimicrobium cellulans β
... was pre-incubated at temperatures between 20 to 100°C for 30 min at optimum pH. The enzyme activity was determined under standard enzyme assay condition. Enzyme assay carried out as described previously. Supernatants of recombinant L. plantarum were taken at predetermined time intervals (0 min, 12, ...
... was pre-incubated at temperatures between 20 to 100°C for 30 min at optimum pH. The enzyme activity was determined under standard enzyme assay condition. Enzyme assay carried out as described previously. Supernatants of recombinant L. plantarum were taken at predetermined time intervals (0 min, 12, ...