Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “monogenic”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 235 records · Page 13Linked to original sources
PubMedDate not supplied

Monogenic tubular salt and acid transporter disorders.

In this review I will briefly discuss two major categories of inherited renal tubular transport disorders: those primarily affecting sodium and potassium (whether retention or wasting), and the primary renal acidopathies. The kidney does not of course carry out any of its myriad homeostatic functions in a vacuum, and interactions with other systems form an important part of the overall picture. This is perhaps most marked in the context of salt homeostasis, where the endocrine system, particularly the mineralocorticoid axis and aldosterone, are closely dovetailed. While these disorders are in general rare, the insights gained in understanding their molecular bases have added significantly to our understanding of normal human physiology. The hope is that these findings may in the future prove relevant to the understanding and treatment of more common disorders.

Genetic Diseases, Inborn↗
PubMedDate not supplied

[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].

Mental retardation (MR) is a symptom in a large group of clinical conditions and affects around 3% of the population. MR is divided into syndromic, if it is characterized by distinctive clinical features and nonspecific when mental retardation is the only defining manifestation. Although genetic causes of X-linked mental retardation (XLMR) are heterogenous and complex, recent findings have led to the identification of an increasing number of genes involved in these conditions. Eight genes involved in nonspecific X-linked mental retardation have been identified so far, including FMR2, GDI1, OPHN1, PAK3, ARHGEF6, IL1RAPL, TM4SF2, and FACL4. Four other MECP2, RSK2, ARX, ATR-X are involved in syndromic and nonspecific forms of MR. Recent research has shown that these genes encode for proteins involved in signaling pathways which regulate cytoskeleton organization, synaptic vesicle transport and establishment of connections between neuronal cells. These findings provide insight into the molecular mechanisms of crucial processes for the development of intellectual and cognitive functions.

Chromosomes, Human, X↗
PubMedDate not supplied

[Genomic structure and DNA diagnosis of hereditary monogenic diseases in the Volga-Ural region].

The review considers the main results of molecular analysis of the genes responsible for cystic fibrosis, phenylketonuria, Wilson-Konovalov disease, Duchenne-Becker progressive muscular dystrophy, myotonic dystrophy, Huntington's disease, and nonsyndromic hereditary hypoacusis in populations of the Volga-Ural region. The results were obtained in the past ten years within the framework of the Russian program Human Genome. The mutation spectra and frequencies of these genes were characterized in the major ethnic groups (Bashkirs, Tatars, Russians) of Bashkortostan. Several diseases were associated with particular alleles or haplotypes of polymorphic loci of relevant genes. The results were used to develop DNA diagnostic procedures optimal for the region and to establish the origin of the mutations involved.

DNA↗
PubMed2004

[The genetics of human monogenic obesity].

Obesity is a clinical syndrome caused by genetic and environmental factors and has a relatively high heretability. Seven genes, of whose mutations each can independently result in severe human obesity, have been cloned. Six of them are involved in the appetite controlling by the central nervous system, and one is related to the regulation of adipocyte differentiation. Investigations into the genetic basis of human obesity are important for understanding the mechanism of obesity formation and for design and screening of anti-obesity drugs.

Animals↗
PubMed1991

[Burden of monogenic hereditary pathologies of the residents of Ashkhabad in the Turkmen SSR].

The results of medico-genetic investigation of population of Ashkhabad city are presented involving 229 thousand individuals (118230 Turkomans, 94050 Russians and 16720 subjects of other nationalities). Aggravation values the ethnic groups studied are as follows: Turkomen--AD (autosome-dominant = 0.86 per 1000 subjects, AR (autosome-recessive) = 2.31 per 1000 subjects, attached X chromosomes = 0.52 per 1000 males; Russians--AD = 0.93 per 1000 subjects, AR = 0.84, attached X chromosomes = 0.17 per 1000 males; other nationalities AD = 0.81, AR = 1.43, attached X chromosomes = 0.27. Aggravation of the urban Turkomen population is more valid than that of rural people. Relationship between non-accidental inbreeding rate and aggravation with autosome-recessive pathology is shown for several ethnic subdivisions of the population studied.

Ethnicity↗
PubMed1990

[Molecular genetics of human monogenic diseases].

The review deals with the analysis of the molecular basis of cytoplasmic genetic determinants and their contribution to inherited disease, as well as with the primary genetic defects underlying some single gene human disorders, such as hepatolenticular degeneration, alpha 1-antitrypsin deficiency, familial hypercholesterolemia, and cystic fibrosis. The results of molecular genetic studies of inherited diseases have been applied to the antenatal and preclinical diagnosis at the levels of mutant genes and anomalous proteins, gene products.

Cystic Fibrosis↗
PubMed1988

[Removal of low density lipoproteins on dextrans sulfate in 2 patients with familial monogenic hypercholesterolemia].

Two patients-a 32 year old man with severe heterozygote familial hyperlipoproteinemia (FH) and a 9 years old girl with homozygote FH-were treated over eight months by LDL apheresis using dextran sulfate cellulose column (Liposorber, Kaneka, Japon). Plasma was separated from blood cells by filtration (TPE Cobe) or centrifugation (2,997 Cobe) through peripheral veins. An IV bolus of 10 IU/kg heparin was given together with local anti-coagulation with 55 g/l sodium citrate, 20 g/l citric acid at a ratio 1:25. Albumin supply was unnecessary. Plasma was removed every 2 weeks through liposorber LA 40 in the adult, and every week through liposorber LA 40 then 2 LA 15 in the child, mean plasma volume exchanged being 1.2 litres in the adult and 1.5 litres par session in the child. EFFECTIVENESS: the DSC column removed on the average 60 p. 100 of total cholesterol (TC) and 65 p. 100 of LDL.C. Apoproteins B levels were reduced by 58 p. 100. After each procedure there was a rapid increase in lipid levels to about the 80 to 90 p. 100 of pretreatment value. In the adult, we obtained levels of TC of less than 300 mg/dl with exchanges every 2 weeks combined with an HMG CoA reductase inhibitor (40 mg/day); in the child, with exchanges every week the same inhibitor did not permit a prolongation of the interval between 2 aphereses. SPECIFICITY: this was confirmed by elution of DSC column bound lipoproteins by 0.1 mol/l NaCl solution. However, the average removal of HDL.C and apoprotein A1 was respectively 31 p. 100 and 32 p. 100. Triglycerides levels were also reduced (48 p. 100). SAFETY: this was good in both cases. Using the filtration technic, hypotension was reported; this side effect did not appear with centrifugation. In the child, we observed immediate type reactions: nasal obstruction, headache and abdominal pain. The change in plasma protein concentration was caused by dilution and/or non specific absorption. CONCLUSION: LDL apheresis alone or combined with an HMG CoA reductase inhibitor is a safe technic, simple to manage without special equipment and producing marked LDL.C level reduction. However, there is also a reduction of HDL-C levels. Despite its high cost, it is a promising new approach to the treatment of FH.

Adult↗