High penetrance
Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A
... The penetrance of MTC and phaeochromocytoma varies according to which codon carries the mutation and, more specifically, by the different amino acid substitutions at each codon ...the penetrance of ...
5
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression
... with high penetrance for syn- dromic and nonsyndromic autism are typically localized to the nucleus and are involved in transcription ...to penetrance when possible, be- cause this information was ...
17
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor
... and penetrance of AIP in a given population, especially in that ones with high prevalence of specific HMBS mu- tations, since published data vary among populations and ...
7
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry
... to the epitope of the PMS2 antibody. This hypothesis is supported by the fact that the antibody binds to some- where between codon 431–862 which is downstream to the deletions in the two gene products of the mutation. ...
7
Investigating the genetic predisposition for familial haematological malignancies
... have high-penetrance predisposition alleles; secondly people with mutations in CHEK2, ATM, BRIP1 or PALB2, which are genes functionally related to BRAC1 and BRAC2, who have an intermediate risk; and thirdly ...
264
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression
... than high-penetrance disease-causing mutations, and if the frequency is higher in cases than in controls, this indicates that the variant confers a risk for a given ...
14
Delineating the genetic heterogeneity of ALS using targeted high throughput sequencing
... of high disease penetrance, 62% of C9orf72 expansion carriers and all FUS : ...of penetrance and family size on the rate of familial disease has previously shown that inheritance of ...
8
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
... of penetrance of FSHD was based on clinical diagnostic criteria and examination of large pedigrees, which, in retrospect, were FSHD1 ...(>95%) penetrance by the age of ...assumed high ...
11
Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca
... the penetrance of fate switching in their ...offspring penetrance was consistent among repeat crosses of the same parental pair ...with high penetrance of the ectopic bone phenotype were bred ...
11
Personalised nutrition Genetic variation and disease risk: new advances
... rare high- penetrance variant would be cystic ...variable penetrance would be ...mediate penetrance; examples include hereditary haemo- chromatosis and BRCA 1 and BRCA 2 variants for breast ...
9
Genetic Markers in Breast Cancer – How Far Have We Come from BRCA1?
... in high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 have been strongly implicated in the genetic predisposition of approximately 20% of familial breast ...
8
A generalizable pre-clinical research approach for orphan disease therapy
... Genetic disorders of high penetrance are typically caused by mutations that result in i) loss-of-function (LOF), i.e., a reduction in the level and/or activity of a given protein, usuall[r] ...
11
The Ess1 Prolyl Isomerase Is Required for Growth and Morphogenetic Switching in Candida albicans
... ble mutants displayed the phenotype of the tup1 single taining media (Liu et al. 1994). In our experiments, cph1 mutants were also reduced for filamentation in Lee’s medium. Mutations in ESS1 behaved similarly, with a ...
12
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
... clinical studies that fully evaluate the clinical impact of NRXN1 dele- tions, with an emphasis on developmental and neuropsychiatric out- comes are required to provide more reliable data from which to accu- rately ...
6
vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed
... To avoid a further increase in disorders and improve the health situation as well as genetic diversity within the Kromfohrländer, a cross breeding program with Dansk-Svensk Gårdshund (Danish – Swedish Farmdog) was ...
9
THE EFFECT OF TRYPTOPHAN ON THE PENETRANCE OF TUMOROUS HEAD IN CROSSES AMONG SELECTED STOCKS OF DROSOPHILA MELANOGASTER
... L-cysteine at a concentration of 0.1 percent did not significantly affect the results of the outcrosses tested but the penetrance of the tumorous head phenotype was significantly [r] ...
8
Metastatic Infection by Methicillin Sensitive Staphylococcus aureus and its Potential Association to an Unusual Humoral Immunodeficiency
... Despite a greater importance has been usually given to IgA in superficial infections and to IgG in the invasive ones; it has been seen that IgM accomplishes opsonizing functions similarly to IgG, though by different ...
6
PHYSIOLOGICAL GENETICS OF MELANOTIC TUMORS IN DROSOPHILA MELANOGASTER. II. THE GENETIC BASIS OF RESPONSE TO TUMORIGENIC TREATMENTS IN THE tu K AND tu bw; st su-tu STRAINS
... we have presented above is relevant to this question in that the tumorigenic effect of enviromental treatments is shown to be due to a tumor gene of low penetrance present in the geno[r] ...
13
Aronson_unc_0153M_18382.pdf
... Other significant findings at recall included a Mallampati level III pharyngeal soft tissue relationship. Patient B’s height was 5’8” and weight 285 lbs., giving a BMI index score of 43.3 BMI (obese) along with a Neck ...
56
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
... the penetrance of such a SL in families known to carry an “additional hit” can be much higher than predicted [33], which may explain the conflicting conclusions on the association with an abnormal phenotype in the ...
8