Temat: gene mutation - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Autorzy:: Kochański, Andrzej
Kabzińska, Dagmara
Powiązania:: https://bibliotekanauki.pl/articles/1041521.pdf
Data publikacji:: 2004
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: S72L mutation
PMP22 gene mutations
Opis:: To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. In the present study we report two cases of de novo S72L mutations in the PMP22 gene detected in patients of Polish origin suffering from CMT1 disease.
Źródło:: Acta Biochimica Polonica; 2004, 51, 4; 1047-1050
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

Artykuł

Zmień widok

na półce

Skocz do pozycji: 2.

Tytuł:: Genetic study of familial cases of Alzheimers disease.
Autorzy:: Kowalska, Anna
Pruchnik-Wolińska, Danuta
Florczak, Jolanta
Modestowicz, Renata
Szczech, Józef
Kozubski, Wojciech
Rossa, Grzegorz
Wender, Mieczysław
Powiązania:: https://bibliotekanauki.pl/articles/1043353.pdf
Data publikacji:: 2004
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: neurodegeneration
dementia
presenilin 1 gene
amyloid precursor protein gene
Alzheimer's disease
mutation
presenilin 2 gene
Opis:: A small number (1-5%) of Alzheimer's disease (AD) cases associated with the early-onset form of the disease (EOAD) appears to be transmitted as a pure genetic, autosomal dominant trait. To date, three genes responsible for familial EOAD have been identified in the human genome: amyloid precursor protein (APP), presenilin 1 (PS1), and presenilin 2 (PS2). Mutations in these genes account for a significant fraction (18 to 50%) of familial cases of early onset AD. The mutations affect APP processing causing increased production of the toxic Aβ42 peptide. According to the "amyloid cascade hypothesis", aggregation of the Aβ42 peptide in brain is a primary event in AD pathogenesis. In our study of twenty AD patients with a positive family history of dementia, 15% (3 of 20) of the cases could be explained by coding sequence mutations in the PS1 gene. Although a frequency of PS1 mutations is less than 2% in the whole population of AD patients, their detection has a significant diagnostic value for both genetic counseling and treatment in families with AD.
Źródło:: Acta Biochimica Polonica; 2004, 51, 1; 245-242
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

Artykuł

Zmień widok

na półce

Informacja

Wyszukujesz frazę "gene mutation" wg kryterium: Temat

Źródło danych

Dostawca treści

Kolekcja

Rok wydania

Wydawca

Temat

Autor

Typ dokumentu

Język