American Thoracic Society Documents
... 10% of parents of children with CCHS (3, 6); and (6) improved understanding of the specific mechanisms whereby PHOX2B results in the CCHS phenotype (6, 18–21). The purpose of a new ATS statement on CCHS is to aid the clinician in optimizing patient care that will be specifically tailored to knowledg ...
... 10% of parents of children with CCHS (3, 6); and (6) improved understanding of the specific mechanisms whereby PHOX2B results in the CCHS phenotype (6, 18–21). The purpose of a new ATS statement on CCHS is to aid the clinician in optimizing patient care that will be specifically tailored to knowledg ...
The development and evolutionary origin of barbels in
... Understanding the origin of morphological novelties is an important goal of evolutionary developmental biology. In pursuit of this goal, we have examined the developmental genetic mechanisms that underlie growth and patterning in a largely overlooked group of morphological novelties: the barbels of ...
... Understanding the origin of morphological novelties is an important goal of evolutionary developmental biology. In pursuit of this goal, we have examined the developmental genetic mechanisms that underlie growth and patterning in a largely overlooked group of morphological novelties: the barbels of ...
Ret/PTC3 is the most frequent form of gene rearrangement
... papillary thyroid carcinomas only for ret/PTC1 rearrangements and found no rearrangement; Ishizaka et al. (1991) found one ret/PTC1 rearrangement among 11 carcinomas, and Wajjwalku et al. (1992) found only one such alteration among 38 carcinomas. On the basis of those observations, RET gene rearrang ...
... papillary thyroid carcinomas only for ret/PTC1 rearrangements and found no rearrangement; Ishizaka et al. (1991) found one ret/PTC1 rearrangement among 11 carcinomas, and Wajjwalku et al. (1992) found only one such alteration among 38 carcinomas. On the basis of those observations, RET gene rearrang ...
NO sensing by FNR: regulation of the Escherichia coli NO
... the ¯avohaemoglobin-encoding gene of E.coli, hmp, is upregulated by NO and RNS; this appears not to involve SoxRS (Poole et al., 1996). We have reported (MembrilloHernaÂndez et al., 1998) a mechanism of hmp gene regulation that involves interaction between S-nitrosothiols and Hcy. Intracellular Hcy ...
... the ¯avohaemoglobin-encoding gene of E.coli, hmp, is upregulated by NO and RNS; this appears not to involve SoxRS (Poole et al., 1996). We have reported (MembrilloHernaÂndez et al., 1998) a mechanism of hmp gene regulation that involves interaction between S-nitrosothiols and Hcy. Intracellular Hcy ...
Fulltext: english,
... senile lentigo have shown that the observed structures can be vary different within a given lesion, suggesting that different areas of a senile lentigo could be in different grades of severity, which proves the heterogeneity of senile lentigo architecture18. There is clinical and histologic evidence ...
... senile lentigo have shown that the observed structures can be vary different within a given lesion, suggesting that different areas of a senile lentigo could be in different grades of severity, which proves the heterogeneity of senile lentigo architecture18. There is clinical and histologic evidence ...
Biochemistry of coenzyme B12‐dependent glycerol and diol
... genes that are homologs of the shell proteins of carboxysomes (polyhedral bodies that encase Rubisco and which are thought to function in concentrating CO2 ) [40^42]. The apparent use of the carboxysome shell protein homologs is to encase diol dehydratase within a polyhedral shell. Thus far, four ho ...
... genes that are homologs of the shell proteins of carboxysomes (polyhedral bodies that encase Rubisco and which are thought to function in concentrating CO2 ) [40^42]. The apparent use of the carboxysome shell protein homologs is to encase diol dehydratase within a polyhedral shell. Thus far, four ho ...
Identification of genes that interact with glp-1, a gene
... glp-1 (ts). From these tests, we learned that unselected mutations of eight genes required for normal C. elegans morphogenesis, including the four already identified, suppress glp-l(ts). All of these suppressors rescue all three mutant phenotypes of glp-1 (ts) (defects in embry- ...
... glp-1 (ts). From these tests, we learned that unselected mutations of eight genes required for normal C. elegans morphogenesis, including the four already identified, suppress glp-l(ts). All of these suppressors rescue all three mutant phenotypes of glp-1 (ts) (defects in embry- ...
The monogenic primary dystonias
... The GAG deletion results in the loss of a glutamic acid within the gene product torsinA (302/303). In addition to the GAG deletion, a few other mutations have been described in TOR1A. A G4A transition was detected in exon 5 (c.863G4A) in a female patient with generalized dystonia and in her unaffec ...
... The GAG deletion results in the loss of a glutamic acid within the gene product torsinA (302/303). In addition to the GAG deletion, a few other mutations have been described in TOR1A. A G4A transition was detected in exon 5 (c.863G4A) in a female patient with generalized dystonia and in her unaffec ...
Rhizobium Nodulation Protein NodC Is an Important Determinant of
... in references 3, 6, and 29). These signal molecules consist of an oligomer of b134-linked N-acetyl-D-glucosamine (GlcNAc) residues which is N-acylated at the nonreducing residue and hence are designated lipochitin oligosaccharides (LCOs). The structures of LCOs produced by different rhizobia vary in ...
... in references 3, 6, and 29). These signal molecules consist of an oligomer of b134-linked N-acetyl-D-glucosamine (GlcNAc) residues which is N-acylated at the nonreducing residue and hence are designated lipochitin oligosaccharides (LCOs). The structures of LCOs produced by different rhizobia vary in ...
A caudal mRNA gradient controls posterior development in the wasp
... master organizer of anterior development in Drosophila and higher dipterans, which is not conserved. Thus, the study of anteroposterior patterning in insects that lack Bicoid can provide insight into the evolution of the diversity of body plan patterning networks. To this end, we have established th ...
... master organizer of anterior development in Drosophila and higher dipterans, which is not conserved. Thus, the study of anteroposterior patterning in insects that lack Bicoid can provide insight into the evolution of the diversity of body plan patterning networks. To this end, we have established th ...
StanfordEncyclopedia_2016_Inheritance
... hereditary information is stored and transmitted. Indeed, views that focus on multiple inheritance systems, may for the same reason not consider the inheritance of plastids as based on a distinct inheritance system. Second, it is assumed that the evolution of complex organismal traits is to be expla ...
... hereditary information is stored and transmitted. Indeed, views that focus on multiple inheritance systems, may for the same reason not consider the inheritance of plastids as based on a distinct inheritance system. Second, it is assumed that the evolution of complex organismal traits is to be expla ...
The Homothorax homeoprotein activates the nuclear localization of
... 4. P2 is homozygous lethal because of the P[lacW] insertion. The P1 homozygote has no apparent morphological defect, but imprecise excision of P[lacW] from P1 can result in lethal mutations that are allelic to P2, and also allelic to hth and dorsotonal (dtl) mutations (Jürgens et al. 1984; Salzberg ...
... 4. P2 is homozygous lethal because of the P[lacW] insertion. The P1 homozygote has no apparent morphological defect, but imprecise excision of P[lacW] from P1 can result in lethal mutations that are allelic to P2, and also allelic to hth and dorsotonal (dtl) mutations (Jürgens et al. 1984; Salzberg ...
a complex voyage to the X chromosome
... cell division. Euchromatic regions are present in as many as 1024 copies, whereas heterochromatin is generally under-replicated. ...
... cell division. Euchromatic regions are present in as many as 1024 copies, whereas heterochromatin is generally under-replicated. ...
Review of the p53 Tumor Suppressor Gene and its Role in Gliomas
... genes that not only stimulate growth as proto-oncogenes do, but also act to constrain growth, as is the case with tumor suppressor genes. Cells therefore receive not only growth stimulatory signals (received by proto-oncogene proteins), but also growth-inhibitory signals (received by proteins speci ...
... genes that not only stimulate growth as proto-oncogenes do, but also act to constrain growth, as is the case with tumor suppressor genes. Cells therefore receive not only growth stimulatory signals (received by proto-oncogene proteins), but also growth-inhibitory signals (received by proteins speci ...
p53 in Hematologic Malignancies
... how SV40 transforms cells was initially characterized as an oncogene, only to find that it is a pivotal tumor-suppressor that is the guardian of DNA-damaged cells by halting their proliferation, pushing badly damaged cells into an apoptotic cell death and preventing unwanted DNA amplification. This ...
... how SV40 transforms cells was initially characterized as an oncogene, only to find that it is a pivotal tumor-suppressor that is the guardian of DNA-damaged cells by halting their proliferation, pushing badly damaged cells into an apoptotic cell death and preventing unwanted DNA amplification. This ...
Chromosome location and characterization of genes for grain
... ), which did not have a significantly higher GPC than LDN, had a higher PROYLD than any other LDN-DIC line except LDN(IsA-6B). The relative PROYLD performance of the LDN-DIC lines indicates that with the exception of LDN(742-6B), none of the other lines combines good grain yield with high GPC. Becau ...
... ), which did not have a significantly higher GPC than LDN, had a higher PROYLD than any other LDN-DIC line except LDN(IsA-6B). The relative PROYLD performance of the LDN-DIC lines indicates that with the exception of LDN(742-6B), none of the other lines combines good grain yield with high GPC. Becau ...
introduction to genetic epidemiology
... The heuristic interpretation is that aggregation exists when cases of disease appear in families more often than one would expect if diseased cases were spread uniformly and randomly over individuals: “it runs in the family” Actual approaches for detecting aggregation depend on the nature of the ...
... The heuristic interpretation is that aggregation exists when cases of disease appear in families more often than one would expect if diseased cases were spread uniformly and randomly over individuals: “it runs in the family” Actual approaches for detecting aggregation depend on the nature of the ...
inactivation of the odontogenic ameloblast
... of the gingiva that plays a critical role in periodontal health. In both cases, ODAM localises at the interface between the cells and the tooth surface. It is also present among the cells of the JE, and is distinctively highly expressed in many epithelial tumours. ODAM has been proposed to be a matr ...
... of the gingiva that plays a critical role in periodontal health. In both cases, ODAM localises at the interface between the cells and the tooth surface. It is also present among the cells of the JE, and is distinctively highly expressed in many epithelial tumours. ODAM has been proposed to be a matr ...
Investigating the functional significance of evolutionarily conserved
... for understanding body patterning in animals. I identified and characterized the role of evolutionarily conserved protein domains of the HOX protein, Sex combs reduced (SCR), in protein function. SCR is required for establishing the identity of both the labial and prothoracic segments. To identify r ...
... for understanding body patterning in animals. I identified and characterized the role of evolutionarily conserved protein domains of the HOX protein, Sex combs reduced (SCR), in protein function. SCR is required for establishing the identity of both the labial and prothoracic segments. To identify r ...
oto`s role in head and trunk development
... organizer function that are directly related to the development of the forebrain using embryological techniques. Genetic evidence for a distinct head organizer has been provided by the phenotype of the Lim1 (Lhx1) knockout mouse (Shawlot and Behringer, 1995). The Lim1 gene encodes a transcription fa ...
... organizer function that are directly related to the development of the forebrain using embryological techniques. Genetic evidence for a distinct head organizer has been provided by the phenotype of the Lim1 (Lhx1) knockout mouse (Shawlot and Behringer, 1995). The Lim1 gene encodes a transcription fa ...
Saccharomyces cerevisiae
... The ability to engineer proteins by directed evolution requires functional expression of the target polypeptide in a recombinant host suitable for construction and screening libraries of enzyme variants. Bacteria and yeast are preferred, but eukaryotic proteins often fail to express in active form i ...
... The ability to engineer proteins by directed evolution requires functional expression of the target polypeptide in a recombinant host suitable for construction and screening libraries of enzyme variants. Bacteria and yeast are preferred, but eukaryotic proteins often fail to express in active form i ...
Mining MIM: phenotype clustering as source of candidate
... phenotype characteristics for an indefinite amount of time. Vice versa, it will take a long time to tie the multitude of documented inheritable phenotype characteristics to their genetic underpinnings. This is for instance the case for the Mendelian Inheritance in Man (MIM) database, which consist o ...
... phenotype characteristics for an indefinite amount of time. Vice versa, it will take a long time to tie the multitude of documented inheritable phenotype characteristics to their genetic underpinnings. This is for instance the case for the Mendelian Inheritance in Man (MIM) database, which consist o ...
Introns Structure Patterns of Variation in Nucleotide Composition in
... (around 79% in A. thaliana and 75% in rice). For those genes, the distribution of intron number within coding regions was similar between species (supplementary table S1, Supplementary Material online) and we decided to use these gene sets as reference. Two additional data sets were formed within ea ...
... (around 79% in A. thaliana and 75% in rice). For those genes, the distribution of intron number within coding regions was similar between species (supplementary table S1, Supplementary Material online) and we decided to use these gene sets as reference. Two additional data sets were formed within ea ...
A Physical Gene Map of the Bacteriophage P22 Late
... In earlier work, cleavage sites of restriction endonucleases EcoRI (Jackson et al., 1978b) and Hind111 (Deans and Jackson, 1979)were located to provide physical reference points on P22 DNA. The physical map was initially oriented with the recombination frequency map by use of early region substituti ...
... In earlier work, cleavage sites of restriction endonucleases EcoRI (Jackson et al., 1978b) and Hind111 (Deans and Jackson, 1979)were located to provide physical reference points on P22 DNA. The physical map was initially oriented with the recombination frequency map by use of early region substituti ...
SVPaper050711
... SVs and the SV’s ancestral state, was used to infer the likely mechanism of formation for simple SVs. To obtain breakpoint sequence, we performed de novo local assembly at 80.3% of deletions23. Comparison of 1,314 predicted deletion breakpoints to the breakpoint delineated by PCR and sequencing (Sup ...
... SVs and the SV’s ancestral state, was used to infer the likely mechanism of formation for simple SVs. To obtain breakpoint sequence, we performed de novo local assembly at 80.3% of deletions23. Comparison of 1,314 predicted deletion breakpoints to the breakpoint delineated by PCR and sequencing (Sup ...