Search results for "INHERIT"

Characterization of a novel open reading frame, urf a, in the mitochondrial genome of fission yeast: correlation of urf a mutations with a mitochondr…

1991

Between the genes for tRNA(gin) and tRNA(ile) an open reading frame of 227 amino acids has been identified which is unique among known mitochondrial genomes and which has been termed urf a (Lang et al. 1983; Kornrumpf et al. 1984). It uses the "mitochondrial" genetic code, i.e., it contains a TGA codon, whereas all other protein-encoding genes, and all but one intronic open reading frame, use the "standard" genetic code (UGG for tryptophan). A previous paper has demonstrated that "mutator" strains show an increased formation of mitochondrial drug-resistant and respiration-deficient mutants (including deletions). In this paper we show that the mutator activity is correlated with mutations in…

Observatoire francophone des néoplasies endocriniennes multiples de type 1. Un outil du Groupe d'étude des Tumeurs Endocrines (GTE)

2007

Wermer's syndrome or Multiple Endocrine Neoplasia Type-1 (MEN1) is an autosomal dominant inherited disease, related to mutations in MEN1, an approximately 10-kb gene encoding menin, localized on chromosome 11q13. The Endocrine Tumor Group (GTE) has set up a MEN1 observatory of 1001 regularly followed MEN1 cases. This observatory aims at registering and evaluating MEN1 cases in a large cohort. Any new study on a particular unexplored aspect of the disease may be proposed by a physician to the GTE. This article describes the way to diagnose a new MEN1 case and to register it. Procedures for participating in a new study are presented. Some original results are quoted.

VACTERL with hydrocephalus: A further case with probable autosomal recessive inheritance

1994

Comparison of healthy behavior in Ukrainian and Polish students of physical education

2021

Introduction: This study aimed to examine the healthy behaviors in undergraduate students of Physical Education (PE) from Ukraine and Poland in comparison to the control sample of students of other faculties. Material and methods: The group of 564 university students (67% of males), ranging in age from 18 to 41 years (M = 22.05, SD = 2.49), was surveyed using a written form of the Health Behavior Inventory (HBI). The HBI includes the following four subscales: healthy habits, nutrition (HHN), preventive behavior (PB), positive adjustments (PA), and healthy practices (HP). Undergraduates' sample consisted of 25% Ukrainian students of PE faculty, 30% Polish PE students, and 45% Polish sample o…

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolong…

2014

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect -

MASPEGHI 2004 Mechanisms for Speialization, Generalization and Inheritance

2005

Rapport de Recherche Projet OCL, N° I3S/RR-2004-15-FR; International audience; MASPEGHI 2004 is the third edition of the MASPEGHI workshop. This year the organizers of both the ECOOP 2002 Inheritance Workshop and MASPEGHI 2003 came together to enlarge the scope of the workshop and to address new challenges. We succeeded in gathering a diverse group of researchers and practitioners interested in mechanisms for managing specialization and generalization of programming language components. The workshop contained a series of presentations with discussions as well as group work, and the interplay between the more than 22 highly skilled and inspiring people from many different communities gave ri…

Family Assets and Financial Misfortunes of the Castellví Family during the 17th Century

2014

La rama del linaje valenciano de los Castellví iniciada a principios del quinientos por el señor de Puchol protagonizó durante el siglo XVII un significativo proceso de acumulación patrimonial. En el origen del mismo se sitúan las adquisiciones realizadas por los sucesivos miembros que lo encabezaron, pero tan importante como ello resultó la estrategia matrimonial de los titulares del linaje, el reducido número de hijos y la reversión a la línea principal de legados de los miembros de la familia que no contrajeron matrimonio o fallecieron sin descendencia. En contrapartida, diversos factores se conjugaron para provocar un endeudamiento progresivo, especialmente acusado desde la década de 16…

Derechos de la viuda en la Valencia foral

2001

This article is about the rights of widows over their deceased husbands’ goods. We can not forget that, because of regulations regarding the separation of properties, these women are in a defenceless situation if they lack their own property, having to depend in most cases on their husbands’ testament. The severity of the system has to be alleviated with dowries, in order that when their husbands die women without inheritance could have at least a certain security. They are in a situation of economic vulnerability, especially grave when their husbands die without property. In this case, the widow’s rights are important in order to ameliorate the economic suffering they experience in their j…