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*  Penetrances Meaning in Malayalam : Penetrances in Malayalam : Malayalam meaning of Penetrances : Online English Malayalam...
Penetrances Meaning in Malayalam, Penetrances in Malayalam, Penetrances Malayalam Equivalent, English to Malayalam Free Dictionary : Malayalam to English Free Dictionary : Meaning of Penetrances in Malayalam : Online Malayalam English Free Dictionary Online രണ്ട് ലക്ഷത്തിലധികം വാക്കുകളും അവയുടെ അർത്ഥങ്ങളും വ്യാഖ്യാനങ്ങളുമുള്ള നിഘണ്ടു ഇംഗ്ലീഷ് - മലയാളം, മലയാളം - മലയാളം നിഘണ്ടു. The biggest and fastest English-Malayalam, Malayalam-Malayalam Dictionary with hundred thousands of words and definitions
http://jenson.in/dicts_mal.php?word=penetrances&submit=1
*  Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement | Journal of Medical Genetics
Methods and results For the ADH phenotype, subjects are considered as affected according to plasma cholesterol levels above the 95th percentile for age and gender. The disease penetrance is generally set at 0.9. These parameters were evaluated in 10 000 carriers of true pathogenic APOB and LDLR mutations and 20 000 relatives negative for the familial mutations. Application of the above parameters in almost a thousand families included in this study would have identified the causal variant in only 38% of all families. An average penetrance of 0.9 or higher, with a cut-point at the 95th percentile, was only observed for LDLR nonsense mutations. For APOB and LDLR missense mutations, a disease penetrance of 0.9 or higher is only expected, when total cholesterol and low-density lipoprotein cholesterol cut-points between the 75th and 90th percentile are used to determine an individual's disease status.. ...
http://jmg.bmj.com/content/52/2/80
*  Institute of Cancer Research Repository - Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is...
Purpose Knowledge of the contribution of high-penetrance susceptibility to familial colorectal cancer (CRC) is relevant to the counseling, treatment, and surveillance of CRC patients and families. Patients and Methods To quantify the impact of germline mutation to familial CRC, we sequenced the mismatch repair genes (MMR) APC, MUTYH, and SMAD4/BMPR1A in 626 early-onset familial CRC cases ascertained through a population-based United Kingdom national registry. In addition, we evaluated the contribution of mutations in the exonuclease domain (exodom) of POLE and POLD1 genes that have recently been reported to confer CRC risk. Results Overall mutations (pathogenic, likely pathogenic) in MMR genes make the highest contribution to familial CRC (10.9%). Mutations in the other established CRC genes account for 3.3% of cases. POLE/POLD1 exodom mutations were identified in three patients with family histories consistent with dominant transmission of CRC. Collectively, mutations in the known genes ...
http://publications.icr.ac.uk/14088/
*  Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood | JEM
We have identified AD TBK1 deficiency as a new genetic etiology of HSE in childhood. The patients' fibroblasts displayed impaired TLR3 responses, confirming the essential role of human TBK1 as an IFN-inducing IRF3 kinase in the TLR3 pathway in these cells. Together with our previous discoveries of AR UNC-93B (Casrouge et al., 2006), AR and AD TLR3 (Zhang et al., 2007; Guo et al., 2011), AR and AD TRIF (Sancho-Shimizu et al., 2011b), and AD TRAF3 (Pérez de Diego et al., 2010) deficiencies, this finding highlights the nonredundant role of TLR3-dependent IFN induction in the CNS for the control of HSV-1 in the course of primary infection in childhood. The clinical penetrance of AD TBK1 deficiency is incomplete, like that of AD TLR3, AR UNC-93B, and AD TRIF deficiencies, consistent with the sporadic occurrence of HSE (Whitley and Kimberlin, 2005). The actual clinical penetrance cannot be assessed, as the frequencies of the TBK1 mutant alleles are not known. We know only that ...
http://jem.rupress.org/content/early/2012/07/24/jem.20111316
*  Wiley: A Statistical Approach to Genetic Epidemiology: Concepts and Applications, with an e-Learning Platform, 2nd Edition -...
Foreword to the First Edition vii. Foreword to the Second Edition viii. Preface xi. Acknowledgments xv. 1 Molecular Genetics 1. 1.1 Genetic information 2. 1.1.1 Location of genetic information 2. 1.1.2 Interpretation of genetic information 5. 1.1.3 Translation of genetic information 5. 1.2 Transmission of genetic information 7. 1.3 Variations in genetic information 10. 1.3.1 Individual differences in genetic information 10. 1.3.2 Detection of variations 12. 1.3.3 Probability for detection of variations 16. 1.4 Problems 18. 2 Formal Genetics 21. 2.1 Mendel and his laws 22. 2.2 Segregation patterns 23. 2.2.1 Autosomal dominant inheritance 24. 2.2.2 Autosomal recessive inheritance 25. 2.2.3 X-chromosomal dominant inheritance 26. 2.2.4 X-chromosomal recessive inheritance 27. 2.2.5 Y-chromosomal inheritance 28. 2.3 Complications of Mendelian segregation 28. 2.3.1 Variable penetrance and expression 29. 2.3.2 Age-dependent penetrance 31. 2.3.3 Imprinting 33. 2.3.4 Phenotypic and ...
http://www.wiley.com/WileyCDA/WileyTitle/productCd-3527323899.html
*  Plus it
Prostate cancer is estimated to have the largest heritable risk component of all common cancers, roughly twice that of breast cancer (1, 2). Family history remains the best clinical predictor of risk. Segregation analyses have been most consistent with a rare genetic component of age-dependent penetrance. The collective results of linkage studies of familial prostate cancer suggest complex heritability: incomplete penetrance (mutations associated with more modest effect sizes than typical of simple Mendelian disease), polygenic inheritance (multiple loci acting jointly to cause disease), and genetic heterogeneity (underlying causal mutations in many genes, each infrequent). These obstacles have posed a marked challenge for the discovery of gene mutations underlying familial prostate cancer. Genome-wide association studies (GWAS) of prostate cancer have detected validated risk variants, but these have been of low effect size (ORs, 1.1-2.0) and collectively have accounted for ...
http://cebp.aacrjournals.org/content/21/8/1348
*  CRAN - Package FamEvent
Simulates age-at-onset traits associated with a segregating major gene in family data obtained from population-based, clinic-based, or multi-stage designs. Appropriate ascertainment correction is utilized to estimate age-dependent penetrance functions either parametrically from the fitted model or nonparametrically from the data. The Expectation and Maximization algorithm can infer missing genotypes and carrier probabilities estimated from family's genotype and phenotype information or from a fitted model. Plot functions include pedigrees of simulated families and predicted penetrance curves based on specified parameter values.. ...
https://cran-r.c3sl.ufpr.br/web/packages/FamEvent/index.html
*  Genetic Prion Diseases disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Penetrance The prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovács et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovács et al 2005 ...
http://www.malacards.org/card/genetic_prion_diseases
*  VackvSuG: The alternative method; diss the two L-suicide beta-substrates
To assess evidence for the presence of a mendelian pattern of familial transmission the presence of a rare major mendelian gene for PD for a gene that influences age-dependent penetrance of WD-repeat (GRWD1) belong to WD-repeat proteins that promotes microtubule dynamics activity somewhat still carried out, this may be true as far as mendelian (nuclear) genetic mechanisms are concerned that there was no highly penetrant mendelian pattern of inheritance here they show that DJ-1 and PSF bind and regulate the major interacting-proteins with DJ-1 in dopaminergic neuronal cells which can be reversed by wild-type DJ-1 [Drosophila gain-of-function mutants identified] to regulate the expression of a neuroprotective genetic program [1.] appears to have constrained the evolution of the nonA [diss-dissonance, plus the cacophony (referred to as 'intron L' by them, [AFX1] as are inhibited by the L-type calcium channel blockers Dmca1A (nbA-cac) are both expressed in tubules] promoter. (PSF), paraspeckle ...
http://lnwme.blogspot.com/2008/07/alternative-method-diss-two-l-suicide.html
*  RUA: Characterization of a novel POLD1 missense founder mutation in a Spanish population
Background: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). Methods: Clinical and molecular data were collected from four independent families known to have a POLD1 Leu474Pro mutation. To establish its founder effect, haplotype construction was performed using 14 flanking POLD1 polymorphic markers. We calculated penetrance estimates and clinical expressivity, globally and stratified by age and sex. Results: We included 32 individuals from the four families: 20 carriers and 12 noncarriers. A common haplotype was identified in these families in a region comprising 2,995 Mb, confirming L474P as the first founder POLD1 mutation identified. Thirteen tumors diagnosed in 10 POLD1 carriers: eight CRC, three endometrial and two other tumors were considered. The median age of cancer onset for POLD1 mutation carriers ...
http://rua.ua.es/dspace/handle/10045/66512
*  Genetic and phenotypic variation
For example, there is 70% penetrance if only 700 individuals express red phenotype out of 1,000 HairredHairred individuals. If penetrance of a phenotype is not 100%, then it has reduced penetrance. Mechanisms of reduced penetrance are not always clear. Expressivity is another important concept in describing genotype-phenotype correlation. Expressivity describes the severity of a phenotype among individuals with the same genotype. For example, if a condition has variable expressivity then one individual might have mild symptoms while another might have severe symptoms (although they have the same genotype). If a trait has constant expressivity then individuals with the same genotype will have the same degree of symptoms.. Mechanisms of variable expressivity are not always clear. Although there is typically a clear genotype-phenotype correlation that associates a specific allele with a specific phenotype, this link is frequently muddled. Even ...
https://studentreader.com/JLM9L/genotypes-phenotypes/
*  Biology-Online • View topic - Reduced penetrance vs. multifactorial?
Penetrance is used as a statistical tool to determine the risk of getting ill when you have a particular well-known mutation. So, I don't think it's vital to distinguish if a disorder has reduced penetrance or multifactorial trait. Of course, this information would be helpful to combat with disorders and more genomic research will lead us to have that level of knowladge one day ...
http://www.biology-online.org/biology-forum/about21163.html?hilit=Penetrance
*  SimWalk2: EA penetrance data file
1 <= Number of Loci of type Affection Status EA 1 <= Trait Name, Number of Liability Classes 101 0.99900 0.01000 0.01000 <= Penetrances: Affection = 1 & Liability = 01 201 0.00100 0.99000 0.99000 <= Penetrances: Affection = 2 & Liability = 01 ...
http://genetics.ucla.edu/software/simwalk_doc/SW2_eaPen.html
*  SimWalk2: Penetrance Data File Format
Then for each liability class you must have two lines of data. Each line starts with an integer label used for that liability class in I8 format. For example, for liability class 1 the unaffecteds might be labeled 101 and the affecteds labeled 201. (This scheme is meant to ease the transition from Linkage-format data where the affection status column immediately precedes the liability class column. For example, the entry 1 1 in Linkage-format would become in SimWalk2 format 101, similarly 2 1 becomes 201.) Following the integer label on each data line are the actual penetrances for that liability subclass. As in Linkage-format the penetrances are listed in order for the three genotypes 1/1, 1/2, and 2/2 ...
http://genetics.ucla.edu/software/simwalk_doc/SW2_FormPen.html
*  Screening for Hereditary Hemochromatosis | Annals of Internal Medicine | American College of Physicians
On the basis of clinically diagnosed hemochromatosis or hemochromatosis-compatible disease, 79 850 hemochromatosis-associated hospitalizations (2.3 per 100 000 residents) were projected in the United States over 18 years (1979 to 1997), although annual rates could not be reliably calculated (28). Of 29 million deaths from 1979 to 1992, 4858 (0.017%) were consistent with hemochromatosis as an underlying cause (12). Age-adjusted mortality rates for hemochromatosis-consistent deaths increased from 1.2 per million in 1979 to 1.8 per million in 1992. These rates were about twice as high in males as in females and in white persons as in nonwhite persons. Both of these estimates of the burden of disease suggest a disease prevalence much lower than the prevalence of associated genetic mutations, which has fueled the debate about disease penetrance. While these statistics are probably underestimates, primarily because of underdiagnosis (29), the extent of this underestimation is not clear. The ...
http://annals.org/aim/article/726823/screening-hereditary-hemochromatosis-systematic-review-u-s-preventive-services-task
*  Plus it
Highly penetrant mutations responsible for Mendelian cancer syndromes have not been systematically identified in large populations. Historically, highly penetrant cancer mutations have been identified in large families with multiple cancer cases using linkage analysis. Next-generation sequencing (NGS) allows for efficient genomic screening of large numbers of familial cancer cases. Highly penetrant mutations such as those found in the APC or mismatch repair (MMR) genes for colorectal cancer (CRC) or BRCA1/2 genes for breast cancer, are rare and often population-specific. Therefore, to identify these rare, highly penetrant cancer-predisposing mutations using NGS requires a large sample size that can make this approach prohibitively expensive.. Here, we present a new, robust NGS pooling strategy for identification of rare, highly penetrant mutations. Our strategy is at least five times less expensive than traditional germline NGS of cancer patients. We screened 1,046 CRC cases and 1,006 unaffected ...
http://cancerres.aacrjournals.org/content/76/14_Supplement/LB-372
*  Publications - Trinity Research : Trinity College Dublin
Molloy A, Kimmich O, Williams L, Butler JS, Byrne N, Molloy F, Moore H, Healy DG, Lynch T, Edwards MJ, Walsh C, Reilly RB, O'Riordan S, Hutchinson M, An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia., Journal of neurology, neurosurgery, and psychiatry, 86, (3), 2015, p331-335 ...
https://www.tcd.ie/research/themes/next-generation-medical-devices/publications/
*  beagle
Please be aware that other genetic diseases or developmental abnormalities may still be present. A genetic test does not replace the need for ongoing clinical assessment by a veterinarian. Disease penetrance and clinical assessment of affected animals can only be performed by a qualified veterinarian ...
http://vetga.com.au/beagle/beagle.html
*  Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON - ePrints - Newcastle University
Full text for this publication is not currently held within this repository. Alternative links are provided below where available. ...
http://eprint.ncl.ac.uk/pub_details2.aspx?pub_id=176646
*  postnatal lethality, complete penetrance Mammalian Phenotype Term (MP:0011085)
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
http://www.informatics.jax.org/vocab/mp_ontology/MP:0011085
*  Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency | JEM
We report here the first large series of patients with complete IL-12Rβ1 deficiency, including 41 deficient individuals from 29 unrelated kindreds (Table I and Fig. 1). The kindreds originate from 17 countries, in Africa, America, Asia, and Europe. Seven other unrelated patients reported elsewhere (15, 17, 18, 21) raise the total number of cases to 48, from 36 kindreds, in 20 countries. The cellular phenotype of IL-12-receptor β1 chain-deficient patients is uniform: all patients tested failed to respond to IL-12. The relative contributions to the clinical phenotype of the lack of response of NK cells (16) and of T lymphocytes (15-18, 21) to IL-12 are unclear. The receptor for IL-23, another IFN-γ-inducing cytokine, contains the IL-12Rβ1 subunit (25), suggesting that patients with IL-12Rβ1 deficiency probably also suffer from IL-23 receptor deficiency.. The results obtained in this study confirm that IL-12Rβ1 deficiency is principally associated with mycobacterial diseases (Table I). If we ...
http://jem.rupress.org/content/197/4/527
*  The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion. | Sigma-Aldrich
Sigma-Aldrich offers abstracts and full-text articles by [Catherine Dehainault, Alexandra Garancher, Laurent Castéra, Nathalie Cassoux, Isabelle Aerts, François Doz, Laurence Desjardins, Livia Lumbroso, Rocío Montes de Oca, Geneviève Almouzni, Dominique Stoppa-Lyonnet, Celio Pouponnot, Marion Gauthier-Villars, Claude Houdayer].
https://www.sigmaaldrich.com/catalog/papers/24858910
*  One half dominant trait | Physics Forums - The Fusion of Science and Community
I'd think incomplete dominance, or alternatively variable penetrance, would be good possibilities that might explain the situation. For some reason, the musculature that creates a dimple on one side of your face, developed fdifferently on the other side, because the 'dominant' gene that gives you a dimple, is not expressed to the same extent ( or not interpreted in the same way) on the other side ...
https://www.physicsforums.com/threads/one-half-dominant-trait.99796/
*  TGF-β Signaling Alterations and Colon Cancer | SpringerLink
Colorectal cancer is the second most common cause of cancer-related death in the United States. Twin studies suggest that 35% of all colorectal cancer cases are inherited. High-penetrance tumor suscep
https://link.springer.com/chapter/10.1007%2F978-1-4419-6033-7_5
*  기저세포 모반 증후군 : 증례보고
기저세포모반증후군 환자의 65~100%에서 악골의 각화낭성 치성종양이 발생한다7,8). 각화낭성 치성종양은 위성 낭, 가성 및 진성 각화 상피로 재발의 가능성이 높다9). 일반적인 각화낭성 치성종양의 발생 연령은 우리나라에서 평균 30.8세이지만 이 증후군에서 발생한 각화낭성 치성종양의 경우, 발생 연령이 평균 22세로 나타나 조기에 발생함을 알 수 있다10). 본 환자의 경우 11세에 발견되어 평균보다 이른 시기에 발생하여 내원한 것을 알 수 있다.. 기저세포모반증후군은 종양억제 유전자로 알려진 염색체 9q22.3이 원인 유전자로 상염색체 우성으로 97% gene penetrance를 갖지만 환자의 증상은 다양하게 나타난다11,12). 또한 Patched (PTCH)라 불리는 9q22.3염색체 상에 위치하는 종양억제유전자가 기저세포 모반 증후군의 원인으로 밝혀졌고 1,13) 그 이외에도 Patched 2 (PTCH2), ...
http://journal.kapd.org/journal/view.php?viewtype=pubreader&number=1379