117 research outputs found
CDH1 mutation distribution and type suggests genetic differences between the etiology of orofacial clefting and gastric cancer
Pathogenic variants in CDH1, encoding epithelial cadherin (E-cadherin), have been implicated in hereditary diffuse gastric cancer (HDGC), lobular breast cancer, and both syndromic and non-syndromic cleft lip/palate (CL/P). Despite the large number of CDH1 mutations described, the nature of the phenotypic consequence of such mutations is currently not able to be predicted, creating significant challenges for genetic counselling. This study collates the phenotype and molecular data for available CDH1 variants that have been classified, using the American College of Medical Genetics and Genomics criteria, as at least ‘likely pathogenic’, and correlates their molecular and structural characteristics to phenotype. We demonstrate that CDH1 variant type and location differ between HDGC and CL/P, and that there is clustering of CL/P variants within linker regions between the extracellular domains of the cadherin protein. While these differences do not provide for exact prediction of the phenotype for a given mutation, they may contribute to more accurate assessments of risk for HDGC or CL/P for individuals with specific CDH1 variants
CDH1 mutation distribution and type suggests genetic differences between the etiology of orofacial clefting and gastric cancer
Pathogenic variants in CDH1, encoding epithelial cadherin (E-cadherin), have been implicated in hereditary diffuse gastric cancer (HDGC), lobular breast cancer, and both syndromic and non-syndromic cleft lip/palate (CL/P). Despite the large number of CDH1 mutations described, the nature of the phenotypic consequence of such mutations is currently not able to be predicted, creating significant challenges for genetic counselling. This study collates the phenotype and molecular data for available CDH1 variants that have been classified, using the American College of Medical Genetics and Genomics criteria, as at least ‘likely pathogenic’, and correlates their molecular and structural characteristics to phenotype. We demonstrate that CDH1 variant type and location differ between HDGC and CL/P, and that there is clustering of CL/P variants within linker regions between the extracellular domains of the cadherin protein. While these differences do not provide for exact prediction of the phenotype for a given mutation, they may contribute to more accurate assessments of risk for HDGC or CL/P for individuals with specific CDH1 variants
Universal Intermediate Phases of Dilute Electronic and Molecular Glasses
Generic intermediate phases with anomalous properties exist over narrow
composition ranges adjacent to connectivity transitions. Analysis of both
simple classical and complex quantum percolation shows how topological concepts
can be used to understand many mysterious properties of high temperature
superconductors, including the remarkably similar phase diagrams of
La(2-x)SrxCuO4 and C(60+y).Comment: 13 pages, 2 figs., 21 ref
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
Theory and description in African Linguistics: Selected papers from the 47th Annual Conference on African Linguistics
The papers in this volume were presented at the 47th Annual Conference on African Linguistics at UC Berkeley in 2016. The papers offer new descriptions of African languages and propose novel theoretical analyses of them. The contributions span topics in phonetics, phonology, syntax, semantics, and pragmatics and reflect the typological and genetic diversity of languages in Africa. Four papers in the volume examine Areal Features and Linguistic Reconstruction in Africa, and were presented at a special workshop on this topic held alongside the general session of ACAL
- …