Search results for "Trance"
showing 10 items of 109 documents
Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease
2018
SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
2021
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We…
Propuesta de indicadores del proceso de enseñanza/aprendizaje en la formación profesional en un contexto de gestión de calidad total
2014
Se propone una batería de indicadores del proceso de enseñanza-aprendizaje diseñados para la práctica cotidiana de la evaluación interna de un centro de formación profesional que permita valorar la eficacia del proceso de E/A y el desarrollo de los factores que influyen en él. Al mismo tiempo, se proponen fórmulas para ajustar algunos indicadores globales que permitan valorar la eficacia del funcionamiento del centro con independencia de los factores externos más relevantes. Los indicadores propuestos pretenden obtener información diferenciada que permita tomar decisiones para mejorar de forma continua el funcionamiento del centro, detectando los factores que actúan como limitantes de los b…
Correction:Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrom…
2020
Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2, path_MSH6, and path_PMS2 result in different risks for cancers in organs including the colorectum, endometrium, ovaries, stomach, small bowel, bile duct, pancreas, and upper urinary tract. Accurate estimates of these risks are essential for planning appropriate approaches to the prevention or early diagnosis of cancers but the robustness of previous studies has been limited by factors including retrospective design,1,2 lack of validation in ind…
C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003)
2012
Objective: To assess the frequency and the phenotype of a large series of Italian sALS and fALS with C9ORF72 repeat expansions. Background Recently we found that large expansions of hexanucleotide repeats (GGGGCC) in the first intron of the C9ORF72 gene, located in the chromosome 9p21, are related to familial and sporadic ALS cases(Renton et al, 2011). Design/Methods: We assessed 126 index fALS (106 Italians, 20 of Sardinians) and 601 sALS (485 Italians, 116 Sardinians), negative for other ALS-related genes mutations. Patients were collected through the ITALSGEN consortium. Repeat primer PCR to screen the presence of the hexanucleotide expansion in the first intron of C9ORF72 have been perf…
Handicap et visibilité : de l’outrance involontaire du corps à l’outrance volontaire de l’apparence
2018
Comment passer outre par rapport a l’apparence ? Notre regard est souvent pris au piege de la difformite corporelle. Il impose a celui ou celle qui en est porteur le poids du rejet social. Loin de negliger l’etat de sideration produit par ce qui excede notre idee de l’humain, il faudra decrire phenomenologiquement cet obstacle du regard ; apres quoi seulement peut etre envisagee la dimension ethique de la reconnaissance d’autrui non pas malgre son apparence, mais a travers elle. La deformation corporelle genere une sorte d’outrance involontaire, une outrance definie comme ce qui deborde le regard, cree de l’incertitude quant a l’humanite meme d’autrui. Peut-on des lors retourner cette outra…
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma
2006
Hereditary predisposition to retinoblastoma (RB) is caused by germline mutations in the retinoblastoma 1 (RB1) gene and transmits as an autosomal dominant trait. In the majority of cases disease develops in greater than 90% of carriers. However, reduced penetrance with a large portion of disease-free carrier is seen in some families. Unambiguous identification of the predisposing mutation in these families is important for accurate risk prediction in relatives and their genetic counseling but also provides conceptual information regarding the relationship between the RB1 genotype and the disease phenotype. In this study we report a novel mutation detected in 10 individuals of an extended fa…
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
1998
Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of b…
The Influence of Student Abilities and High School on Student Growth: A Case Study of Chinese National College Entrance Exam
2019
Enabled by available educational data and data mining techniques, educational data analysis has become a hot topic. Current researches mainly focus on the prediction of problems and performance rather than revealing the underlying causal relationships. Based on a unique exam data, we extracted the abilities of examinee from HSEE (High School Entrance Exam) based on the knowledge of educational experts, then we measured student growth from middle school to high school in total score and subject scores. We studied the impact of high school ranking and student abilities of HSEE on student growth by multiple linear regression model, in which high school ranking is divided into 5 levels, Level 1…
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
2006
Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …