A Mutation in LTBP2 Causes Congenital Glaucoma in
... dynamic relationship between aqueous humor production and outflow. Obstruction of aqueous humor outflow leads to elevated IOP, which is an important risk factor for the development of glaucoma [2]. Although glaucoma is generally considered a disease of older adults, it is an important and devastatin ...
... dynamic relationship between aqueous humor production and outflow. Obstruction of aqueous humor outflow leads to elevated IOP, which is an important risk factor for the development of glaucoma [2]. Although glaucoma is generally considered a disease of older adults, it is an important and devastatin ...
Human mitochondrial transfer RNAs: Role of pathogenic
... single-fiber polymerase chain reaction (PCR), and (5) cause defects of mitochondrial protein synthesis and respiratory chain deficiencies in single or multiple affected tissues of patients and demonstrable in cybrid cell lines. Cybrid cell lines are generated by transferring mitochondria isolated from ...
... single-fiber polymerase chain reaction (PCR), and (5) cause defects of mitochondrial protein synthesis and respiratory chain deficiencies in single or multiple affected tissues of patients and demonstrable in cybrid cell lines. Cybrid cell lines are generated by transferring mitochondria isolated from ...
... ABL is variable over a region of 200 kb, often between the two alternative exons 1b and 1a, sometimes 5’ of 1b or 3’ of 1a, but always 5’ of exon 2; breakpoint in BCR is either: 1- in a region called M-bcr (for major breakpoint cluster region), a cluster of 5.8 kb, between exons 12 and 16, also call ...
CTLA4 gene polymorphisms are associated with chronic bronchitis
... Bergen cohort (0.0325fpf0.0408). One of these replicated SNPs (rs231775) encodes the Thr to Ala substitution at amino acid position 17. Haplotype analyses supported the results of single SNP analyses. Thus, CTLA4 is likely to be a genetic determinant of chronic bronchitis among COPD cases. KEYWORDS: ...
... Bergen cohort (0.0325fpf0.0408). One of these replicated SNPs (rs231775) encodes the Thr to Ala substitution at amino acid position 17. Haplotype analyses supported the results of single SNP analyses. Thus, CTLA4 is likely to be a genetic determinant of chronic bronchitis among COPD cases. KEYWORDS: ...
Molecular basis of the clinical variability of Rett syndrome
... such as fibroblast and lymphoblast cells [62]. MeCP2, in addition to the nuclear localization signal, has two functional domains: the methyl-CpG binding domain (MBD), that bind the symmetrically methylated CpGs islands and the transcriptional repression domain (TRD), which is able to recruit co-repr ...
... such as fibroblast and lymphoblast cells [62]. MeCP2, in addition to the nuclear localization signal, has two functional domains: the methyl-CpG binding domain (MBD), that bind the symmetrically methylated CpGs islands and the transcriptional repression domain (TRD), which is able to recruit co-repr ...
Document
... Homogentisic acid is secreted in urine of these patients. This is an aromatic compound and so Garrod suggested that it was an intermediate that was accumulating in mutant individuals and was caused by lack of enzyme that splits aromatic rings of amino Acids. ...
... Homogentisic acid is secreted in urine of these patients. This is an aromatic compound and so Garrod suggested that it was an intermediate that was accumulating in mutant individuals and was caused by lack of enzyme that splits aromatic rings of amino Acids. ...
A Pseudomonas syringae pv. tomato DC3000 mutant
... 1964; Mysore and Ryu, 2004). Type-II non-host and racespecific resistance against P. syringae often appear similar. When inoculated at a low level, P. syringae strains will grow well initially in plants with either type of resistance, but growth is sustained for several days and necrotic symptoms ar ...
... 1964; Mysore and Ryu, 2004). Type-II non-host and racespecific resistance against P. syringae often appear similar. When inoculated at a low level, P. syringae strains will grow well initially in plants with either type of resistance, but growth is sustained for several days and necrotic symptoms ar ...
Progress in the Understanding of the Genetic Etiology of Vertebral
... Figure 4. Clinical features of spondylocostal dysostosis. a) An affected child showing short trunk and short stature, with abdominal protrusion. b) An affected newborn showing truncal and neck shortening with secondary abdominal distension. c) Radiograph of an affected infant. The vertebral dysgenes ...
... Figure 4. Clinical features of spondylocostal dysostosis. a) An affected child showing short trunk and short stature, with abdominal protrusion. b) An affected newborn showing truncal and neck shortening with secondary abdominal distension. c) Radiograph of an affected infant. The vertebral dysgenes ...
Characterisation of the katA gene encoding a catalase and evidence
... katA for an erythromycin resistance gene, ermB (Fig. 1B). By this replacement, the ¢rst 60 codons of katA including the start codon and ribosome-binding site were removed resulting in a complete block of KatA production. Surprisingly, the KatA mutant still exhibited catalase activity. Comparing cata ...
... katA for an erythromycin resistance gene, ermB (Fig. 1B). By this replacement, the ¢rst 60 codons of katA including the start codon and ribosome-binding site were removed resulting in a complete block of KatA production. Surprisingly, the KatA mutant still exhibited catalase activity. Comparing cata ...
Discovering the Distribution of Palindromic Sequences in the
... and quaternary structures of RNA are important to its function and expression; if an RNA molecule was mutated by a deletion or other mutation (particularly large mutations), RNA expression will be compromised as it may be too susceptible to enzymes or it may be unable to unwind during expression. Sm ...
... and quaternary structures of RNA are important to its function and expression; if an RNA molecule was mutated by a deletion or other mutation (particularly large mutations), RNA expression will be compromised as it may be too susceptible to enzymes or it may be unable to unwind during expression. Sm ...
Clinical Features, and Nucleotide Changes in Three Families with
... congenital superior oblique muscle palsy (Fig. 1) was used for the study. The diagnosis of superior oblique muscle palsy was based on the presence of hypertropia (upward deviation of the eye) on the affected paralyzed side, which became greatest in the gaze toward the nasal field of the involved eye. ...
... congenital superior oblique muscle palsy (Fig. 1) was used for the study. The diagnosis of superior oblique muscle palsy was based on the presence of hypertropia (upward deviation of the eye) on the affected paralyzed side, which became greatest in the gaze toward the nasal field of the involved eye. ...
Bio-session package - Social Science Genetic Association Consortium
... genotyped itself, and so its effect usually will be detected through an association with a genotyped variant. This genotyped variant can be robustly associated with disease in multiple samples from the same population, or even across populations, but it is not the mutation that causes variation in r ...
... genotyped itself, and so its effect usually will be detected through an association with a genotyped variant. This genotyped variant can be robustly associated with disease in multiple samples from the same population, or even across populations, but it is not the mutation that causes variation in r ...
Compound heterozygosity of novel missense
... carboxylase active site to facilitate the reaction are largely unknown, due in part to the lack of a crystal structure or homology with other proteins that might indicate functional residues. Structurefunction relationships for VKORC1 are even less well defined, because the gene for this enzyme has ...
... carboxylase active site to facilitate the reaction are largely unknown, due in part to the lack of a crystal structure or homology with other proteins that might indicate functional residues. Structurefunction relationships for VKORC1 are even less well defined, because the gene for this enzyme has ...
Understanding the Scurred condition in Polled Cattle
... Understanding the Scurred condition in Polled Cattle Most calves that are horned can be identified at birth or shortly after, and almost always by weaning time. Distinguishing between smooth-polled and scurred-polled is more difficult. Scurs, a rudimentary horn growth, are often not seen until cattl ...
... Understanding the Scurred condition in Polled Cattle Most calves that are horned can be identified at birth or shortly after, and almost always by weaning time. Distinguishing between smooth-polled and scurred-polled is more difficult. Scurs, a rudimentary horn growth, are often not seen until cattl ...
Leukaemia Section MLL amplification in leukemia Atlas of Genetics and Cytogenetics
... FISH has been useful in detecting MLL amplification. In many cases, the MLL amplification was suspected by conventional banded chromosomes, but was confirmed by FISH instead. Most cases are identified on the basis of multiple MLL signals by FISH. The number of copies of MLL is quit variable ranging ...
... FISH has been useful in detecting MLL amplification. In many cases, the MLL amplification was suspected by conventional banded chromosomes, but was confirmed by FISH instead. Most cases are identified on the basis of multiple MLL signals by FISH. The number of copies of MLL is quit variable ranging ...
fulltext
... two KCNQ1 mutations –p.Y111C and p.R518X- commonly identified in Swedish LQTS index cases. Methods Cases and families with LQTS (p.Y111C or p.R518X) and JLNS were recruited via regional clinical practices, national referrals to the Clinical Genetics laboratory, Umeå University Hospital, and a nation ...
... two KCNQ1 mutations –p.Y111C and p.R518X- commonly identified in Swedish LQTS index cases. Methods Cases and families with LQTS (p.Y111C or p.R518X) and JLNS were recruited via regional clinical practices, national referrals to the Clinical Genetics laboratory, Umeå University Hospital, and a nation ...
PHANTASTICA Regulates Development of the Adaxial Mesophyll in
... is shown in Figure 1 with identical residues shaded. All have a highly conserved MYB DNA binding domain at the N terminus, consisting of two imperfect repeats (55 and 51 residues), both of which are essential for sequence-specific DNA binding based on structural analysis of c-MYB (Jin and Martin, 19 ...
... is shown in Figure 1 with identical residues shaded. All have a highly conserved MYB DNA binding domain at the N terminus, consisting of two imperfect repeats (55 and 51 residues), both of which are essential for sequence-specific DNA binding based on structural analysis of c-MYB (Jin and Martin, 19 ...
The alternative splicing of tau exon10 and its
... àClinical Neurochemistry and NPF-Center of Excellence Research Laboratories, University Clinic for Psychiatry, Wuerzburg, ...
... àClinical Neurochemistry and NPF-Center of Excellence Research Laboratories, University Clinic for Psychiatry, Wuerzburg, ...
The Genetics of CFTR: Genotype – Phenotype Relationship
... that severely decrease the protein quantity in the apical membrane, although often in a tissue-specific manner. In class III are included mutations leading to defective regulation that impair channel opening. Although the CFTR protein is able to reach the apical membrane, it is not properly activate ...
... that severely decrease the protein quantity in the apical membrane, although often in a tissue-specific manner. In class III are included mutations leading to defective regulation that impair channel opening. Although the CFTR protein is able to reach the apical membrane, it is not properly activate ...
The revised Ghent nosology for the Marfan syndrome
... and for including some rather non-specific physical manifestations or poorly validated diagnostic thresholds. Although the assignment of major and minor criteria within the Ghent nosology has contributed to its utility, several of those criteria are not intuitive when considered from the perspective ...
... and for including some rather non-specific physical manifestations or poorly validated diagnostic thresholds. Although the assignment of major and minor criteria within the Ghent nosology has contributed to its utility, several of those criteria are not intuitive when considered from the perspective ...
Heavy Chain Diversity Region Segments of the Channel Catfish
... exist. In the other clusters, recombination appears restricted to segments within a cluster and both the D1 and D2 segments appear to be utilized (13). The sequences of the D1 and D2 segments in different clusters are highly conserved which suggests that shark DH gene segments encode only limited CD ...
... exist. In the other clusters, recombination appears restricted to segments within a cluster and both the D1 and D2 segments appear to be utilized (13). The sequences of the D1 and D2 segments in different clusters are highly conserved which suggests that shark DH gene segments encode only limited CD ...
122602 Hydrophobic Surfactant Proteins in Lung Function
... monary surfactant that creates a lipid-rich phase separating alveolar gas and liquid at the surfaces of epithelial cells (Fig. 1). Pulmonary surfactant phospholipids form monolayers and multilayers that reduce surface tension in the alveolus to negligible levels, thereby stabilizing the alveoli and ...
... monary surfactant that creates a lipid-rich phase separating alveolar gas and liquid at the surfaces of epithelial cells (Fig. 1). Pulmonary surfactant phospholipids form monolayers and multilayers that reduce surface tension in the alveolus to negligible levels, thereby stabilizing the alveoli and ...
A homozygous double mutation in SMN1
... point mutation within exon 5 (c.662C>T; p.Pro221Leu). Neither mutation has been described previously in the literature or in an available SMN database (www.dmd.nl). The large extended family pedigree (Fig. 1a) showing muscle disease, infant death, and consanguinity supported the diagnosis in the ini ...
... point mutation within exon 5 (c.662C>T; p.Pro221Leu). Neither mutation has been described previously in the literature or in an available SMN database (www.dmd.nl). The large extended family pedigree (Fig. 1a) showing muscle disease, infant death, and consanguinity supported the diagnosis in the ini ...
Peroxisomal disorders I: biochemistry and genetics of peroxisome
... (RCDP). ZS, NALD, and IRD are clearly distinct from RCDP and are usually referred to as the Zellweger spectrum with ZS being the most severe and NALD and IRD the less severe disorders. Studies in the late 1980s had already shown that the PBD group is genetically heterogeneous with at least 12 distin ...
... (RCDP). ZS, NALD, and IRD are clearly distinct from RCDP and are usually referred to as the Zellweger spectrum with ZS being the most severe and NALD and IRD the less severe disorders. Studies in the late 1980s had already shown that the PBD group is genetically heterogeneous with at least 12 distin ...
Mice 2 NZW)F Genetic Complementation in Female (BXSB ×
... for disease acceleration (16, 17), and double bone marrow chimera experiments using mixtures of Yaa⫹ and Yaa⫺ cells demonstrated selective production of anti-DNA and hypergammaglobulinemia by Yaa⫹ B cells (18). The Ab promoting effect of the Yaa gene was observed not only for self Ags, but also for ...
... for disease acceleration (16, 17), and double bone marrow chimera experiments using mixtures of Yaa⫹ and Yaa⫺ cells demonstrated selective production of anti-DNA and hypergammaglobulinemia by Yaa⫹ B cells (18). The Ab promoting effect of the Yaa gene was observed not only for self Ags, but also for ...