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Mutation and variability
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Tumor mutational burden (TMB; the quantity of aberrant nucleotide sequences a given tumor may harbor) has been associated with response to immune checkpoint inhibitor therapy and is gaining broad acceptance as a result. However, TMB harbors intrinsic variability across cancer types, and its assessment and interpretation are poorly standardized.
16p
vibransone
28-03-2024
2
2
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Part 1 book "PCR primer design" includes content: Fast masking of repeated primer binding sites in eukaryotic genomes, design of primers and probes for quantitative real time PCR methods, low concentration initiator primers improve the amplification of gene targets with high sequence variability, degenerate primer design for highly variable genomes,....and other contents.
115p
oursky06
17-10-2023
3
1
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Part 2 book "PCR primer design" includes content: Degenerate degenerate primer design for highly variable genomes, allele specific real time polymerase chain reaction as a tool for urate transporter 1 mutation detection, in silico PCR primer designing and validation, designing primers for snapshot technique,...and other contents.
114p
oursky06
17-10-2023
2
1
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Progressive multifocal leukoencephalopathy is a rare demyelinating disease that is often secondary to lytic destruction of oligodendrocytes and, to a lesser extent, to astrocytes’ response to human neurotrophic John Cunningham polyomavirus.
5p
vigamora
23-05-2023
3
2
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The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.
9p
vicaptainmarvel
21-04-2023
4
2
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Genetic factors play an important role in hearing loss, contributing to approximately 60 % of cases of congenital hearing loss. Autosomal dominant deafness accounts for approximately 20 % of cases of hereditary hearing loss. Diseases with autosomal dominant inheritance often show pleiotropy, different degrees of penetrance, and variable expressivity.
11p
vinarcissa
21-03-2023
4
1
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In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by CHRNG is expressed during early foetal development, whereas in the adult, the γ subunit is replaced by a ε subunit.
8p
vinarcissa
21-03-2023
2
1
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Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects.
9p
vinarcissa
21-03-2023
4
2
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Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variable age at onset and rate of progression between different breeds.
8p
vinarcissa
21-03-2023
1
1
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Mitochondrial cytopathies are characterized by a large variability of clinical phenotypes and severity. The amount of mutant mitochondrial DNA (mtDNA) in a cell, called the heteroplasmy level, is an important determinant of the degree of mitochondrial dysfunction and therefore disease severity.
8p
vinarcissa
21-03-2023
2
1
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DNA is subject to constant chemical modification and damage, which eventually results in variable mutation rates throughout the genome. Although detailed molecular mechanisms of DNA damage and repair are well understood, damage impact and execution of repair across a genome remain poorly defined.
23p
vigalileogalilei
27-02-2022
8
1
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Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures.
23p
viaristotle
29-01-2022
8
0
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Postoperative inadequate analgesia following video-assisted thoracoscopic surgery (VATS) is a common and significant clinical problem. While genetic polymorphisms may play role in the variability of postoperative analgesia effect, few studies have evaluated the associations between genetic mutations and inadequate analgesia after single-port VATS.
10p
vizhangzhidong
29-12-2021
11
1
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Gene order changes, under rearrangements, insertions, deletions and duplications, have been used as a new type of data source for phylogenetic reconstruction. Because these changes are rare compared to sequence mutations, they allow the inference of phylogeny further back in evolutionary time. There exist many computational methods for the reconstruction of gene-order phylogenies, including widely used maximum parsimonious methods and maximum likelihood methods.
8p
vilarryellison
29-10-2021
11
0
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Muscle invasive urothelial bladder carcinoma (MIBC) present RB1 and TP53 somatic alterations in a variable percentage of tumors throughout all molecular subtypes. MIBCs with neuroendocrine features have a high response rate to immunity checkpoint inhibitors (ICIs).
23p
vianrose2711
27-04-2021
7
0
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Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but delayed diagnosis.
6p
vipalau2711
30-12-2020
7
1
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Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant MED.
8p
vimariana2711
22-12-2020
8
2
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The present investigation was carried out to study the extent of variability existed in the sesamum varieties namely TMV 4, TMV 7, VRI 2, Thilak and TNY Local after induction of mutation through chemical mutagens namely EMS. The results of M1 generation revealed that there was a shift in the mean for the characters Viz., Days to first flowering, Plant height, Number of branches per plant, Number of capsules per plant, Length of capsule, Number of seeds per capsule, Seed yield per plant, 1000-seed weight and Oil content towards positive /negative directions.
7p
caygaocaolon8
07-11-2020
5
2
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Protein variability can now be studied by measuring high-resolution tolerance-to-substitution maps and fitness landscapes in saturated mutational libraries. But these rich and expensive datasets are typically interpreted coarsely, restricting detailed analyses to positions of extremely high or low variability or dubbed important beforehand based on existing knowledge about active sites, interaction surfaces, (de)stabilizing mutations, etc.
13p
vioklahoma2711
19-11-2020
11
1
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In this paper, an improved version of Differential Evolution algorithm, called iDE, is introduced to solve design optimization problems of composite laminated beams. The beams used in this research are Timoshenko beam models computed based on analytical formula. The iDE is formed by modifying the mutation and the selection step of the original algorithm. Particularly, individuals involved in mutation were chosen by Roulette wheel selection via acceptant stochastic instead of the random selection.
11p
cothumenhmong8
04-11-2020
19
1
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