Dryocoetiops krivetsae sp. n. (Coleoptera: Curculionidae: Scolytinae: Dryocoetini), the northernmost species of the genus: conflicts between molecular and morphological data in the tribe Dryocoetini.

A new species of bark beetle, Dryocoetiops krivetsae Kerchev, Mandelshtam, Bykov et Ilinsky, sp. n., from the southern part of Primorsky Krai (Russian Far East), is described.

Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is a very common human hereditary disease in Russia and in the whole world with most of mutations localized in the gene coding for the low density lipoprotein receptor (LDLR). The object of this review is to systematize the knowledge about LDLR mutations in Russia. With this aim we analyzed all available literature on the subject and tabulated the data.

Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

The first studies of familial hypercholesterolemia (FH) in Russia go back to late 1980-ies. For more than 10 years the research in this field was carried out in Saint-Petersburg, the megapolis in the North-West Russia. Studies were focused on the search for causative mutations in low-density lipoprotein receptor gene ().

East Asian Erichson (Curculionidae, Scolytinae): new species, new synonymy and redescriptions of species.

Erichson, 1836 is a taxonomically challenging genus. It is particularly speciose in Asia. Many species are minor pests of fruit tree crops and forest products.

New records of Iranian bark beetles (Coleoptera: Curculionidae, Scolytinae) and their host plants.

Bark and ambrosia beetles from the subfamily Scolytinae are among the most important pests in forests of Northern Iran. During investigations conducted in 2013-2016 in different parts of northern forests, the species Crypturgus cribrellus Reitter, Liparthrum bartschti Mühl, Scolytus varshalovitchi Michalski, Scolytus sulcifrons Rey, Scolytus triarmatus (Eggers) and Trypophloeus granulatus (Ratzeburg) were recorded for the first time in Iran; Trypophloeus and Liparthrum were new genera for Iran. As new host plants we found Zelkova sp.

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH.

[The Familial Hypercholesterolemia Caused by a Novel Human Low Density Lipoprotein Receptor Gene Mutation c.1327 T>C (p.W433R)].

During investigation of molecular nature of familial hypercholesterolemia (FH) in Petrozavodsk (Russia) cohort of patients a novel low density lipoprotein (LDL) receptor gene mutation was found. This mutation designated c.1327 T>C (W443R [W422R]) was predicted to cause substitution of arginine for tryptophan residue in the very conservative -propeller domain of the LDL receptor.

Description of a new species of Bothinodroctonus Schedl, 1969 (Coleoptera: Curculionidae, Scolytinae) from Africa.

A new species of Bothinodroctonus in the tribe Polygraphini is described from Gambia and Kenya. This is the first representative of the genus in Afrotropical region. A holotype based description contains also the intraspecific variety of the newly described species based on available specimens and differential diagnoses to species within the genus.

A survey of the weevils of Ukraine. Bark and ambrosia beetles (Coleoptera: Curculionidae: Platypodinae and Scolytinae).

Our knowledge of Ukrainian bark and ambrosia beetles (Coleoptera: Curculionidae: Scolytinae and Platypodinae) is summarized as a baseline for future studies of the fauna, with a checklist including information on distribution, host trees, biology and taxonomy. One hundred twenty-two species are recorded from Ukraine, of which seven are recorded for the first time. One species is recorded for the first time from Europe.

[The clinical manifestations of atherosclerosis in familial hypercholesterolemia].

Aim: To study the specific features of manifestations of atherosclerosis in Karelia dwellers with familial hypercholesterolemia (FH).

Subjects And Methods: The examination of 196 patients with FH involved laboratory tests, electrocardiography, echocardiography, triplex scanning of the arteries, exercise testing, and coronarography as indicated. Genetic examination was performed in 109 (55.

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7) mutation and four previously unknown mutations.

[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].

Unlabelled: Familial hypercholesterolemia (FHC) is a genetic disorder manifest as a rise in serum cholesterol level responsible for the development ofcardiovascular diseases.

Aim: To study genetic peculiarities of FHC in Kareliya.

Materials And Methods: 109 patients of the 196 ones with FHC (124 families) were subjected to genetic examination.

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Background: Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnostic tools for the disease. Recent research of FH in St.

"Finnish" mutations in LDL receptor gene: a rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk.

The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St. Petersburg (80 families) and Petrozavodsk (80 families) using allele-specific PCR and analysis of single-stranded DNA fragment conformation polymorphism (SSCP analysis) with subsequent sequencing. The FH-North Karelia mutation was found in one family in St.

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Novel mutation p. FsS65:D129X in human low density lipoprotein receptor gene in a female patient with typical clinical symptoms of familial hypercholesterolemia is described in this paper. Segregation of this mutation with hypercholesterolemia in the family of the patient from Petrozavodsk is demonstrated.

The red-listed species Thamnurgus rossicus in East Europe is a synonym of the rare Central European species, T. petzi (Curculionidae: Scolytinae).

The taxonomic status of Thamnurgus rossicus was evaluated with respect to the morphologically similar T. petzi using genetic markers. Nucleotide data from the mitochondrial COI gene revealed 2.

[Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg].

In 32 patients with primary congenital glaucoma (PCG), a search for mutations in the myocilin (MYOC), cytochrome P450B1 (CYP1B1), and WDR36 genes was performed. The Q368X mutation in myocilin gene, typical of the patients with adult-onset primary open-angle glaucoma (POAG), was not detected in the PCG patients. Screening of the CYP1B1 introns 2 and 3 for the presence of mutations in PCG patients revealed only six DNA polymorphisms, including IVS1-12ntT>C (g.

Description of new Dryocoetes (Coleoptera, Curculionidae, Scolytinae) speciesfrom Afghanistan and Northern India and redescription of Scolytoplatypus kunala Strohm.

A new bark beetle species, Dryocoetes brownei from Northern India and Afghanistan, is described as a new to science and redescription of Scolytoplatypus kunala Strohmeyer, 1908, previously known only from the female holotype, is provided.

Scolytus stepheni sp. n. - a new species of bark-beetle (Coleoptera, Curculionidae, Scolytinae) from Northern India with a key to Indian Scolytus Geoffroy, 1762 species.

A new species of bark-beetle from Kashmir, Scolytus stephenisp. n., dedicated to the late Professor Emeritus Stephen Lane Wood, is described and figured.

[Monogenic hypercholesterolemias: new genes, new drug targets].

This review is focused on recent data on structure and functions of PCSK9 proprotein convertase, a newly identified participant in cholesterol metabolism in mammalian organisms, including humans. Proprotein convertase acts as a molecular chaperone for the low density lipoprotein (LDL) receptor, targeting it to the lysosomal degradation pathway. Various mutations increasing the PCSK9 affinity toward the LDL receptor cause autosomal dominant hypercholesterolemia.

[Novel BRCA1 gene mutations in breast cancer patients from St. Petersburg].

Screening of patients with familial breast cancer from St. Petersburg for BRCA1 gene mutations resulted in identification of three mutations (414del3, 276delA, and A622V) and two polymorphisms (P871L and S1436S). Mutations 4146del3 and 276delA are novel, never previously described elsewhere.

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Examination of low-density lipoprotein (LDL) receptor, its promoter, and major exon-intron boundaries from a sample of patients with familial hypercholesterolemia (FH) from 74 probands of St. Petersburg revealed 34 mutations and 8 widely spread polymorphisms at this locus. Only four mutations were considered silent, while the other 30 are likely associated with familial hypercholesterolemia (FH).

[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].

A collection of DNA samples obtained from primary open-angle glaucoma (POAG) patients from St. Petersburg was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene (MYOC/TIGR) and in exons 4 and 5 of the optineurin gene (OPTN), where most of the mutations revealed worldwide are located. The Q368X mutation (c.

[Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg].

Ten variants different from the canonical nucleotide sequence (GenBank, U14680) has been identified when studying the mutation spectrum in gene BRCA1. Six of them (5382insC, 2963del10, 3819de15, 3875del4, 2274insA, and R1203X) cause premature termination of protein synthesis, thus predisposing to breast cancer. A missense mutation E1250K is presumed to be a factor of predisposition to cancer.