Search results for "NHE"

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

2007

The Rubinstein-Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused by heterozygous mutations of the CREBBP gene, but recently, EP300 gene mutations were reported in three individuals. Using quantitative PCR (for the CREBBP and EP300 genes) and genomic sequencing (for the EP300 gene), we studied here 13 patients who had shown no mutation after genomic sequencing of the CREBBP gene in a previous investigation. Two new disease-causing mutations were identified, including a partial deletion of CREBBP and a 1-bp deletion in EP300, c.7100delC (p.P2366fsX2401). The 1-bp deletion represe…

Histone-mediated transgenerational epigenetics

2019

Abstract Epigenetic mechanisms operate at the interface between the environment and genome, by converting the environmental stimuli to phenotypic responses through changes in the chromatin landscape, which ultimately affects gene expression in the absence of alterations in DNA sequence. In this scenario, transgenerational inheritance occurs when epigenetic variations induced by environmental stimuli are transmitted through the germ line to succeeding generations that had never experienced those stimuli. There is an ever-growing list of reports indicating that histones are fundamental players in these processes in a variety of organisms. In this chapter, we provide a perspective on histone-d…

Human blastocysts derived from monopronuclear zygotes: a biological model for the study of ploidy, euploidy, topography and heteroparental inheritance

2019

The clinical spectrum of alpha-L-iduronidase deficiency.

1985

We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.

On the genetics of the pi serum proteins.

1970

The authors report family studies (51 families with 134 children) on the inheritance of the Pi phenotypes. Combining these data with a Norwegian family material (77 families with 323 children) published by Fagerhol and Gedde-Dahl (1969) a total of 128 families with 457 children is now available, which allows the following conclusion: The Pi phenotypes are inherited by a simple codominant mode of heredity and they are determined by a set of (at least nine) alleles. As up to now no exception to the role of inheritance has been observed, the application of the Pi system in cases of disputed paternity seems to be discussible. Some methodological problems in connection with this are shown.

The time to prevent mendelian genetic diseases from donated or own gametes has come

2015

Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.

1988

Dalmatian dogs may develop a neuronal or generalized ceroid-lipofuscinosis (NCL) which strongly resembles that seen in English setters, especially as to the ultrastructural changes and ubiquity of the stored lipopigments and the retinal pathology, while differing clinically from the disorder of English setters in that the disease has a longer course of up to 5 or 6 yr. Clinical onset is at about age 6 months; however, an unequivocal morphological diagnosis is possible between the 4th and 5th month of life in biopsied skin. Detailed data of additional investigations are in progress and are awaiting later publication. Thus, NCL in the Dalmatian dog, though not yet as thoroughly investigated a…

On the genetics of psoriasis

1974

To elucidate the mode of inheritance in psoriasis, Falconer's model for estimating heritability which is under the assumption of multifactorial inheritance, was applied to the data of Hellgren (1967) from Sweden. The heritability estimates were based on both manifest and potential psoriasis since a clear separation of these two categories was impossible. These estimates were 64% for parents, 60% for siblings and 52% for all first degree relatives which included the children of psoriatic cases. For second degree relatives it was 48%. None of these differences are statistically significant. The results are discussed.

Decreasing the Number of Gaps in the Draft Assembly of theMannheimia Haemolytica M7/2 Genome Sequence

2009

The singular fate of Genetics in the History of French Biology, 1900-1940

1988

In this study we have examined the reception of Mendelism in France from 1900 to 1940, and the place of some of the extra-Mendelian traditions of research that contributed to the development of genetics in France after World War II. Our major findings are: (1) Mendelism was widely disseminated in France and thoroughly understood by many French biologists from 1900 on. With the notable exception of Lucien Cuenot, however, there were few fundamental contributions to the Mendelian tradition, and virtually none from about 1915 to the midthirties. Prior to 1900, Cuenot's work was already marked by a striking interest in physiological mechanisms; his physiological preoccupations played a consider…