A SMN missense mutation complements SMN2 restoring snRNPs
... analysis has been performed and various splicing changes identified, it is still not clear which changes are due to reduced SMN levels as opposed to stress or secondary changes (41). Thus, no specific targets of SMN reduction have been identified to date. SMN has also been found in axons and growth ...
... analysis has been performed and various splicing changes identified, it is still not clear which changes are due to reduced SMN levels as opposed to stress or secondary changes (41). Thus, no specific targets of SMN reduction have been identified to date. SMN has also been found in axons and growth ...
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... wild-type heart-stage embryos is expressed throughout the cotyledon primordia (Long and Barton, 1998; Schoof et al., 2000), was detected around the whole apical circumference of gnom embryos (Fig. 1D,H), and was mainly restricted to the epidermis. This aberrant marker expression reflects the failure ...
... wild-type heart-stage embryos is expressed throughout the cotyledon primordia (Long and Barton, 1998; Schoof et al., 2000), was detected around the whole apical circumference of gnom embryos (Fig. 1D,H), and was mainly restricted to the epidermis. This aberrant marker expression reflects the failure ...
Determining the Transcription Factor Genes Populating a Fruit Fly
... Drosophila melanogaster transcription factor genes individually along the dorsal midline of the abdomen. The reduction of gene expression occurs through the exploitation of the endogenous fruit fly RNA interference pathway. In general, RNAi reduces gene expression through inactivating specific mRNA ...
... Drosophila melanogaster transcription factor genes individually along the dorsal midline of the abdomen. The reduction of gene expression occurs through the exploitation of the endogenous fruit fly RNA interference pathway. In general, RNAi reduces gene expression through inactivating specific mRNA ...
Genetic polymorphisms among C57BL/6 mouse inbred strains
... different substrains as identical (and commonly refer to these as ‘‘C57’’ or ‘‘C57 black’’ or ‘‘B6’’), it is important to distinguish the exact background when examining the genotype because of the possible effects on phenotype. Thus, knockout and transgenic mice produced in C57BL/6J and C57BL/6N in ...
... different substrains as identical (and commonly refer to these as ‘‘C57’’ or ‘‘C57 black’’ or ‘‘B6’’), it is important to distinguish the exact background when examining the genotype because of the possible effects on phenotype. Thus, knockout and transgenic mice produced in C57BL/6J and C57BL/6N in ...
Changes in retinoic acid signaling alter otic patterning
... in RA-signaling-depleted embryos, whereas excess RA led to a size increase (Fig. 1G-I). Use of pax8 expression, which is initiated in the otic anlagen prior to the formation of the placode, showed that the opposite phenotypes generated by excess or deficient RA signaling are already evident at preot ...
... in RA-signaling-depleted embryos, whereas excess RA led to a size increase (Fig. 1G-I). Use of pax8 expression, which is initiated in the otic anlagen prior to the formation of the placode, showed that the opposite phenotypes generated by excess or deficient RA signaling are already evident at preot ...
Neurospora Spore Killers Sk-2 and Sk
... of the tetrad give rise to round ascospores; even those nuclei that contain a wild-type allele are round. The cause of dominance is probably rearrangements and/or deletions that prevent the wild-type allele from pairing with a homolog. MSUD is implicated in these ascusdominant phenotypes of these mu ...
... of the tetrad give rise to round ascospores; even those nuclei that contain a wild-type allele are round. The cause of dominance is probably rearrangements and/or deletions that prevent the wild-type allele from pairing with a homolog. MSUD is implicated in these ascusdominant phenotypes of these mu ...
Modified uridine at wobble position in tRNA of
... which are derivatives of the four normal nucleosides, adenosine (A), guanosine (G), cytidine (C), and uridine (U). Although modified nucleosides are present at many positions in tRNAs, two positions in the anticodon region, position 34 (wobble position) and position 37, show the largest variety of m ...
... which are derivatives of the four normal nucleosides, adenosine (A), guanosine (G), cytidine (C), and uridine (U). Although modified nucleosides are present at many positions in tRNAs, two positions in the anticodon region, position 34 (wobble position) and position 37, show the largest variety of m ...
Targeting of Monomer/Misfolded SOD1 as a Therapeutic Strategy for
... with SEDI peptide (n ⫽ 10) in CFA, using PBS in CFA (saline-CFA) as negative control (n ⫽ 10), from 6 weeks of age until 5 months of age. Immunization was initiated at 6 weeks of age to determine the effect of removing monomer/misfolded SOD1 on timing of disease onset. Second, immunization at an ear ...
... with SEDI peptide (n ⫽ 10) in CFA, using PBS in CFA (saline-CFA) as negative control (n ⫽ 10), from 6 weeks of age until 5 months of age. Immunization was initiated at 6 weeks of age to determine the effect of removing monomer/misfolded SOD1 on timing of disease onset. Second, immunization at an ear ...
Visceral endoderm-restricted translation of Otx1
... In particular Otx1 null mice are viable and show spontaneous epileptic seizures and abnormalities affecting the dorsal telencephalic cortex. Otx2 null mice die early in development and fail in specification of the rostral neuroectoderm and proper gastrulation. In order to determine whether Otx1−/− a ...
... In particular Otx1 null mice are viable and show spontaneous epileptic seizures and abnormalities affecting the dorsal telencephalic cortex. Otx2 null mice die early in development and fail in specification of the rostral neuroectoderm and proper gastrulation. In order to determine whether Otx1−/− a ...
Mesenchymal Dysplasia: A Recessive Mutation
... hyperplasia was more pronounced in male than in female mutant mice, but was present in both sexes. Histologic examination of achilles tendon of mutant mice revealed that the collagen was mineralized, but neither bone nor cartilage was present in the tendons. Other organs were without significant les ...
... hyperplasia was more pronounced in male than in female mutant mice, but was present in both sexes. Histologic examination of achilles tendon of mutant mice revealed that the collagen was mineralized, but neither bone nor cartilage was present in the tendons. Other organs were without significant les ...
The Homothorax homeoprotein activates the nuclear localization of
... defects in segmentation, head involution, CNS, and PNS (Kurant et al. 1998). To examine the role of hth in imaginal development, clones of hth mutant cells were generated by FLPase-induced mitotic recombination (Xu and Rubin 1993). Three hth alleles (P2, P1-D15, P1-K6-1) were studied. All of them sh ...
... defects in segmentation, head involution, CNS, and PNS (Kurant et al. 1998). To examine the role of hth in imaginal development, clones of hth mutant cells were generated by FLPase-induced mitotic recombination (Xu and Rubin 1993). Three hth alleles (P2, P1-D15, P1-K6-1) were studied. All of them sh ...
Peer Review Report
... 3. Line #290-291: Authors should ascertain whether the reduction of shoot regeneration in the esr1 mutant is because of the sheer reduction in the amount of callus formation. This can be done by careful correlation between amount of callus formed and number of shoot regenerated. 4. In the esr1 muta ...
... 3. Line #290-291: Authors should ascertain whether the reduction of shoot regeneration in the esr1 mutant is because of the sheer reduction in the amount of callus formation. This can be done by careful correlation between amount of callus formed and number of shoot regenerated. 4. In the esr1 muta ...
Expression and function of decapentaplegic and thick veins during
... 1992). In the third instar wing disc the expression of veinlet (ve) is initiated in proximodistal stripes of cells that correspond to the presumptive veins (Sturtevant et al., 1993). The Veinlet protein appears to mediate an increase in the activity of the tyrosine kinase receptor, Torpedo (top; Stu ...
... 1992). In the third instar wing disc the expression of veinlet (ve) is initiated in proximodistal stripes of cells that correspond to the presumptive veins (Sturtevant et al., 1993). The Veinlet protein appears to mediate an increase in the activity of the tyrosine kinase receptor, Torpedo (top; Stu ...
The development and evolutionary origin of barbels in
... barbels display extensive variety in their position, composition, developmental stage of appearance, and function among species (Ryder 1883; Sato 1937; Fuiman 1984; Fox 1999). They may exist as either unpaired structures on the midline or paired, bilaterally symmetric appendages, may be located on ...
... barbels display extensive variety in their position, composition, developmental stage of appearance, and function among species (Ryder 1883; Sato 1937; Fuiman 1984; Fox 1999). They may exist as either unpaired structures on the midline or paired, bilaterally symmetric appendages, may be located on ...
A caudal mRNA gradient controls posterior development in the wasp
... examined, loss of cad results in embryos where only anterior head structures remain and all thoracic, abdominal and posterior structures fail to form. This phenotype is more severe than the Dm cadmat+zyg phenotype, and suggests that cad may play a greater role in patterning ancestral insects than in ...
... examined, loss of cad results in embryos where only anterior head structures remain and all thoracic, abdominal and posterior structures fail to form. This phenotype is more severe than the Dm cadmat+zyg phenotype, and suggests that cad may play a greater role in patterning ancestral insects than in ...
Transvection Is Common Throughout the Drosophila
... Figure 1 Independent labeling of two hemilineages in the larval ventral nervous system. (A) Schematic of a CRMGAL4 transgene inserted into an attP site. Red-shaded boxes indicate sequences that originate from the attBcontaining CRM-GAL4 vector. Yellow-shaded boxes indicate sequences from the attP-c ...
... Figure 1 Independent labeling of two hemilineages in the larval ventral nervous system. (A) Schematic of a CRMGAL4 transgene inserted into an attP site. Red-shaded boxes indicate sequences that originate from the attBcontaining CRM-GAL4 vector. Yellow-shaded boxes indicate sequences from the attP-c ...
ORAL UPF/ TESI DOCT Nicotine addiction phenotypes in a BAC transgenic mouse
... nicotine addiction. Specifically, we focus on the cluster CHRNA5/A3/B4 of human chromosome 15, which human genetic studies have identified as a strong candidate for nicotine dependence and smoking-related behaviours. This cluster codifies for the alpha5, alpha3 and beta4 subunits of the nicotinic ac ...
... nicotine addiction. Specifically, we focus on the cluster CHRNA5/A3/B4 of human chromosome 15, which human genetic studies have identified as a strong candidate for nicotine dependence and smoking-related behaviours. This cluster codifies for the alpha5, alpha3 and beta4 subunits of the nicotinic ac ...
Smn - Nationwide Children`s Hospital
... scAAV9-SMN results in over a year survival of SMA mice survival. scAAV9 is even more effective in larger animals ( primates). Intravenous and intrathecal delivery can be considered both target motor neurons. IND given clinical phase 1 trial started. Early results positive no adverse affects and stil ...
... scAAV9-SMN results in over a year survival of SMA mice survival. scAAV9 is even more effective in larger animals ( primates). Intravenous and intrathecal delivery can be considered both target motor neurons. IND given clinical phase 1 trial started. Early results positive no adverse affects and stil ...
Effete, a Drosophila chromatin-associated ubiquitin
... BLUE and BLACK chromatins, which are thought to have repressive properties (Filion et al. ...
... BLUE and BLACK chromatins, which are thought to have repressive properties (Filion et al. ...
Familial Alzheimer`s Disease–Linked Presenilin 1 Variants Elevate
... studies indicate that conditioned medium from fibroblasts or plasma of affected members of pedigrees with PS1/PS2-linked mutations show a highly significant increase in the ratio of Ab1–42(43)/Ab1–40 relative to unaffected family members (Scheuner et al., 1996). The emerging view that Ab1–42(43) pla ...
... studies indicate that conditioned medium from fibroblasts or plasma of affected members of pedigrees with PS1/PS2-linked mutations show a highly significant increase in the ratio of Ab1–42(43)/Ab1–40 relative to unaffected family members (Scheuner et al., 1996). The emerging view that Ab1–42(43) pla ...
Leukaemia Section 3q rearrangements in myeloid malignancies Atlas of Genetics and Cytogenetics
... The EVI1 gene encodes a sequence specific Cys2/Hys2 type 145kDa zinc finger protein, containing two sets of seven and three zing fingers, respectively. Alternative splicing creates a 88 kDa isoform that lacks the nuclear localisation signal and two zinc fingers. MDS1/EVI1 encodes a PR domain family ...
... The EVI1 gene encodes a sequence specific Cys2/Hys2 type 145kDa zinc finger protein, containing two sets of seven and three zing fingers, respectively. Alternative splicing creates a 88 kDa isoform that lacks the nuclear localisation signal and two zinc fingers. MDS1/EVI1 encodes a PR domain family ...
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 ...
oto`s role in head and trunk development
... telencephalon that expresses Fgf8, a signaling molecule with important roles in a number of developmental processes including an early role in regulating telencephalic development (Shimamura and Rubenstein, 1997). Although a role for Fgf8 expression in the CP has not been clearly defined, it is a us ...
... telencephalon that expresses Fgf8, a signaling molecule with important roles in a number of developmental processes including an early role in regulating telencephalic development (Shimamura and Rubenstein, 1997). Although a role for Fgf8 expression in the CP has not been clearly defined, it is a us ...
Mouse Lefty2 and Zebrafish Antivin Are Feedback
... The murine “lefty” locus is composed of two highly conserved genes, lefty1 and lefty2, which are tightly linked on chromosome 1 (Meno et al., 1997). To examine the role of lefty2 in gastrulation and L–R asymmetry, we generated mutant mice deficient in lefty2. To inactivate lefty2, we constructed a t ...
... The murine “lefty” locus is composed of two highly conserved genes, lefty1 and lefty2, which are tightly linked on chromosome 1 (Meno et al., 1997). To examine the role of lefty2 in gastrulation and L–R asymmetry, we generated mutant mice deficient in lefty2. To inactivate lefty2, we constructed a t ...
Role of brain-derived neurotrophic factor in Huntington`s disease
... Received 27 October 2006; received in revised form 23 January 2007; accepted 23 January 2007 ...
... Received 27 October 2006; received in revised form 23 January 2007; accepted 23 January 2007 ...