The red head and neck of Boer goats may be controlled by the
... head and neck of Boer goats are controlled by one recessive gene on an autosome that shows a simple Mendelian inheritance. It is regrettable that neither the identity of the recessive gene nor the molecular genetic basis of its phenotype have been reported so far. MC1R plays a critical role in the c ...
... head and neck of Boer goats are controlled by one recessive gene on an autosome that shows a simple Mendelian inheritance. It is regrettable that neither the identity of the recessive gene nor the molecular genetic basis of its phenotype have been reported so far. MC1R plays a critical role in the c ...
Characterization of lysine decarboxylase
... Published by Blackwell Publishing Ltd. All rights reserved ...
... Published by Blackwell Publishing Ltd. All rights reserved ...
embor2011116-sup-0001
... proteins that are most important for promoting the formation of amyloid aggregates. It uses the Dubay et al. algorithm, but considers only the intrinsic factors (charge, hydrophobicity and PATs) to calculate the amyloid aggregation propensities for all the naturally occurring amino acid residues. Wh ...
... proteins that are most important for promoting the formation of amyloid aggregates. It uses the Dubay et al. algorithm, but considers only the intrinsic factors (charge, hydrophobicity and PATs) to calculate the amyloid aggregation propensities for all the naturally occurring amino acid residues. Wh ...
A Mutation in LTBP2 Causes Congenital Glaucoma in
... Glaucoma is a leading cause of blindness due to characteristic damage to the retinal ganglion cells (RGCs) and optic nerve, and in the human population is estimated to affect more than 60 million people worldwide [1]. Maintenance of an intraocular pressure (IOP) within a defined normal range is vita ...
... Glaucoma is a leading cause of blindness due to characteristic damage to the retinal ganglion cells (RGCs) and optic nerve, and in the human population is estimated to affect more than 60 million people worldwide [1]. Maintenance of an intraocular pressure (IOP) within a defined normal range is vita ...
Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a
... and speech was slurred. Fasciculations were seen in the tongue and in the proximal arm muscles. Reflexes of the masseter muscles and deep tendon reflexes of arms and legs were hyperactive, and Babinski sign was present. Head, arm, and leg muscles were weak. Sensory abnormalities were not found. Need ...
... and speech was slurred. Fasciculations were seen in the tongue and in the proximal arm muscles. Reflexes of the masseter muscles and deep tendon reflexes of arms and legs were hyperactive, and Babinski sign was present. Head, arm, and leg muscles were weak. Sensory abnormalities were not found. Need ...
the lkb1 tumor suppressor - E
... maintaining genomic integrity. This class of tumor suppressors contains genes involved in DNA repair and replication. Mutations in caretaker genes result in genomic instability and in increased mutation rate. Consequently, gatekeepers are prone to become inactivated and oncogenes activated due to th ...
... maintaining genomic integrity. This class of tumor suppressors contains genes involved in DNA repair and replication. Mutations in caretaker genes result in genomic instability and in increased mutation rate. Consequently, gatekeepers are prone to become inactivated and oncogenes activated due to th ...
Genetic Evidence for a Silent SUC Gene in Yeast.
... which constitute gene families exhibiting variability in the number and location of active alleles in different strains (MORTIMER and HAWTHORNE 1969). These families are apparently analogous in organization to the SUC gene family. Most yeast strains do not carry SUC+ alleles at all known SUC loci, b ...
... which constitute gene families exhibiting variability in the number and location of active alleles in different strains (MORTIMER and HAWTHORNE 1969). These families are apparently analogous in organization to the SUC gene family. Most yeast strains do not carry SUC+ alleles at all known SUC loci, b ...
Genetic Control of Root Hair Development in
... in each case, the mutations affect the morphology of the individual root hair cells and do not noticeably alter the spacing or distribution of root hairs. In addition, mutations in three of the four genes (the exception is RHD3) are root hair-specific; these mutant plants cannot be distinguished vis ...
... in each case, the mutations affect the morphology of the individual root hair cells and do not noticeably alter the spacing or distribution of root hairs. In addition, mutations in three of the four genes (the exception is RHD3) are root hair-specific; these mutant plants cannot be distinguished vis ...
17. Prof. K. P. Bhatia: Paroxysmal Movement Disorders
... family, all with typical PNKD with autosmal dominant inhertitance.53-55 It appears that there is genetic homogeneity for typical familial PNKD/PDC. The gene for this disorder was recently identified and is called the myofibrillogenesis regulator 1 gene.56 Mis-sense mutations were identified in the a ...
... family, all with typical PNKD with autosmal dominant inhertitance.53-55 It appears that there is genetic homogeneity for typical familial PNKD/PDC. The gene for this disorder was recently identified and is called the myofibrillogenesis regulator 1 gene.56 Mis-sense mutations were identified in the a ...
Polymorphisms in Multiple Genes Contribute to the
... contributed to the high petite frequency of S288C and its derivatives by increasing the formation of petite colonies. By contrast, the S288C allele of MKT1 reduced the formation of petite colonies and compromised the growth of petite cells. The former three alleles were found in the EM93 strain, the ...
... contributed to the high petite frequency of S288C and its derivatives by increasing the formation of petite colonies. By contrast, the S288C allele of MKT1 reduced the formation of petite colonies and compromised the growth of petite cells. The former three alleles were found in the EM93 strain, the ...
protein 2 gene: study of a cohort of Israeli patients - MRC
... variant, using clinical criteria established by Hagberg et al.4 The cohort also included four females with Angelman-like features and nine patients with diagnoses reminiscent of RTT, including seven females with autism spectrum disorder and two males with congenital severe encephalopathy. All the pa ...
... variant, using clinical criteria established by Hagberg et al.4 The cohort also included four females with Angelman-like features and nine patients with diagnoses reminiscent of RTT, including seven females with autism spectrum disorder and two males with congenital severe encephalopathy. All the pa ...
Replication timing and transcriptional control: beyond
... Replication timing and subnuclear position Several recent studies suggest that replication timing is re-established in each cell cycle by modifications of chromatin that take place as sequences are re-positioned after mitosis (reviewed in [13,43]). In mammalian cells, the events that establish a rep ...
... Replication timing and subnuclear position Several recent studies suggest that replication timing is re-established in each cell cycle by modifications of chromatin that take place as sequences are re-positioned after mitosis (reviewed in [13,43]). In mammalian cells, the events that establish a rep ...
The axr4 auxin-resistant mutants of Arabidopsis thaliana define a
... The axr4 mutations are recessive and map near the chl mutation on chromosome 1. Mutant plants are specifically resistant to auxin and defective in root gravitropism. Double mutants between axr4 and the recessive auxinresistant mutants axrl-3 and auxl-7 were characterized to ascertain possible geneti ...
... The axr4 mutations are recessive and map near the chl mutation on chromosome 1. Mutant plants are specifically resistant to auxin and defective in root gravitropism. Double mutants between axr4 and the recessive auxinresistant mutants axrl-3 and auxl-7 were characterized to ascertain possible geneti ...
PDF - Hormones.gr
... adaptation, a state that has been called allostasis or cacostasis.2,5,7 The latter states of hypofunction or hyperfunction of the HPA axis may have short-term or long-term adverse consequences for the individual and can lead to a compromised sense of well-being and/or performance.7-9 At the molecula ...
... adaptation, a state that has been called allostasis or cacostasis.2,5,7 The latter states of hypofunction or hyperfunction of the HPA axis may have short-term or long-term adverse consequences for the individual and can lead to a compromised sense of well-being and/or performance.7-9 At the molecula ...
Genetic and epigenetic risks of intracytoplasmic sperm injection
... (PGD) is recommended for couples who are both positive for CF mutations and wish to integrate ICSI and genetic diagnosis at early stages of the embryonic development [21, 22]. Josserand et al. [23] detected CFTR mutations on 56 alleles of 50 males with congenital bilateral absence of vas deferens. A ...
... (PGD) is recommended for couples who are both positive for CF mutations and wish to integrate ICSI and genetic diagnosis at early stages of the embryonic development [21, 22]. Josserand et al. [23] detected CFTR mutations on 56 alleles of 50 males with congenital bilateral absence of vas deferens. A ...
Genetic recombination in plants
... are genes. This process, however, is greatly complicated by the difficulty in distinguishing ...
... are genes. This process, however, is greatly complicated by the difficulty in distinguishing ...
Solid Tumour Section Kidney: Nephroblastoma (Wilms tumor) Atlas of Genetics and Cytogenetics
... to tryptophan transition in exon 3 of WT1 is also associated with DDS as well as exon 2 mutations and N-terminal truncations. Somatic mutations: Stop and frameshift mutations in about 10% of Wilms Tumours. Aberrant splice forms have also been detected. Note: Other chromosomal regions involved are: - ...
... to tryptophan transition in exon 3 of WT1 is also associated with DDS as well as exon 2 mutations and N-terminal truncations. Somatic mutations: Stop and frameshift mutations in about 10% of Wilms Tumours. Aberrant splice forms have also been detected. Note: Other chromosomal regions involved are: - ...
A gain of function mutation causing skeletal overgrowth in the
... (rpz, rpz2 and rpz3). Two additional paralogues (rpz4 and rpz5) are also present on chromosome 16, outside of the critical region. All five genes are located on the same strand. Marker positions are shown along with their number of crossovers from rapunzel (see Supplemental data for more details rega ...
... (rpz, rpz2 and rpz3). Two additional paralogues (rpz4 and rpz5) are also present on chromosome 16, outside of the critical region. All five genes are located on the same strand. Marker positions are shown along with their number of crossovers from rapunzel (see Supplemental data for more details rega ...
PDF
... mutant. We confirmed that primary cilia were disrupted in talpid2 mutants. Molecularly, we found disruptions in Hedgehog signaling. Posttranslational processing of GLI2 and GLI3 was aberrant in the developing facial prominences. Although both GLI2 and GLI3 processing were disrupted in talpid2 mutant ...
... mutant. We confirmed that primary cilia were disrupted in talpid2 mutants. Molecularly, we found disruptions in Hedgehog signaling. Posttranslational processing of GLI2 and GLI3 was aberrant in the developing facial prominences. Although both GLI2 and GLI3 processing were disrupted in talpid2 mutant ...
2- pcr primer design and reaction optimisation
... Primer length and sequence are of critical importance in designing the parameters of a successful amplification: the melting temperature of a NA duplex increases both with its length, and with increasing (G+C) content: a simple formula for calculation of the Tm is Tm = 4(G + C) + 2(A + T)oC. Thus, t ...
... Primer length and sequence are of critical importance in designing the parameters of a successful amplification: the melting temperature of a NA duplex increases both with its length, and with increasing (G+C) content: a simple formula for calculation of the Tm is Tm = 4(G + C) + 2(A + T)oC. Thus, t ...
Mutation
In biology, a mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. Mutations result from damage to DNA which is not repaired or to RNA genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity.Mutation can result in several different types of change in sequences. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in nongenic regions. One study on genetic variations between different species of Drosophila suggests that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70 percent of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or weakly beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state.