953 resultados para Coins, Turkish


Relevância:

10.00% 10.00%

Publicador:

Resumo:

Nemaline myopathy (NM) is a rare muscle disorder characterised by muscle weakness and nemaline bodies in striated muscle tissue. Nemaline bodies are derived from sarcomeric Z discs and may be detected by light microscopy. The disease can be divided into six subclasses varying from very severe, in some cases lethal forms to milder forms. NM is usually the consequence of a gene mutation and the mode of inheritance varies between NM subclasses and different families. Mutations in six genes are known to cause NM; nebulin (NEB), alpha-actin, alpha-tropomyosin (TPM3), troponin T1, beta-tropomyosin (TPM2) and cofilin 2, of which nebulin and -actin are the most common. One of the main interests of my research is NEB. Nebulin is a giant muscle protein (600-900 kDa) expressed mainly in the thin filaments of striated muscle. Mutations in NEB are the main cause of autosomal recessive NM. The gene consists of 183 exons. Thus being gigantic, NEB is very challenging to investigate. NEB was screened for mutations using denaturing High Performance Liquid Chromatography (dHPLC) and sequencing. DNA samples from 44 families were included in this study, and we found and published 45 different mutations in them. To date, we have identified 115 mutations in NEB in a total of 96 families. In addition, we determined the occurrence in a world-wide sample cohort of a 2.5 kb deletion containing NEB exon 55 identified in the Ashkenazi Jewish population. In order to find the seventh putative NM gene a genome-wide linkage study was performed in a series of Turkish families. In two of these families, we identified a homozygous mutation disrupting the termination signal of the TPM3 gene, a previously known NM-causing gene. This mutation is likely a founder mutation in the Turkish population. In addition, we described a novel recessively inherited distal myopathy, named distal nebulin myopathy, caused by two different homozygous missense mutations in NEB in six Finnish patients. Both mutations, when combined in compound heterozygous form with a more disruptive mutation, are known to cause NM. This study consisted of molecular genetic mutation analyses, light and electron microscopic studies of muscle biopsies, muscle imaging and clinical examination of patients. In these patients the distribution of muscle weakness was different from NM. Nemaline bodies were not detectable with routine light microscopy, and they were inconspicuous or absent even using electron microscopy. No genetic cause was known to underlie cap myopathy, a congenital myopathy characterised by cap-like structures in the muscle fibres, until we identified a deletion of one codon of the TPM2 gene, in a 30-year-old cap myopathy patient. This mutation does not change the reading frame of the gene, but a deletion of one amino acid does affect the conformation of the protein produced. In summary, this thesis describes a novel distal myopathy caused by mutations in the nebulin gene, several novel nebulin mutations associated with nemaline myopathy, the first molecular genetic cause of cap myopathy, i.e. a mutation in the beta-tropomyosin gene, and a founder mutation in the alpha-tropomyosin gene underlying autosomal recessive nemaline myopathy in the Turkish population.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Dr. Nathan Wolf's medals: (bottom left) silver Wound Badge; Iron Cross 2nd Class; Iron Cross 1st Class; Zaehringer Loewe (Baden); (on right) Medal of the Turkish Crescent

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: 1 Lira silver coin. Reverse: Hanukkah lamp from Italy.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver 5 Lirot coin. Reverse: A stylized lighthouse, the seawall, stylized inscription.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver 1 Lira coin. Reverse: Hanukkah lamp from North Africa

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: 1 Lira coin, torch and inscription. Reverse: Inside of a depressed pentagon there is a design of a war elephant bearing a turret and Greek soldiers equipped for battle. The elephant is being stabbed by Elazar.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver 5 Lirot coin with large emblem of the State of Israel. Reverse: Design of the building of Knesset.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: silver 5 Lirot coin. Reverse: In the upper right portait of Theodore Herzl in rectangle with rounded corners. Below the emblem of the state of Israel.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver 5 Lirot coin, in the right side olive branch. Reverse: A stylized reproduction of an ancient Holy Ark which appears on a gold-vessel painted in the 13th century C.E.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver 10 Lirot coin, a stylized spikelet of corn. Reverse: Schematic plough.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver Half Lira coin. Reverse: A raised reproduction of an ancient silver half-shekel of beaded rim from the third year of the first Jewish revolt against the Romans 66-73 C.E.. At the center of the coin in a chalice inscription in the archaic Hebrew letters.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver Half Lira coin. Reverse: A raised reproduction of an ancient silver half-shekel of beaded rim from the third year of the first Jewish revolt against the Romans 66-73 C.E.. At the center of the coin in a chalice inscription in the archaic Hebrew letters.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Silver 5 Lirot coin. Replica of the capital and part of a pillar, of the 7th century BCE found at Ramat Rachel on the outskirts of Jerusalem. Reverse: A stylized relief of the buildings of Israeli Museum in Jerusalem.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: 1 Lira Coin. A view of the Hadassah Medical Center in ein Kerem Jerusalem. Reverse: a figure of a shepherdess tenderly folding a newborn lamb in her arms.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Obverse: Within a circle (a symbol of the sun) an inscription. Reverse: The emblem of the Israel Government Coins and Medals Corporation, inscription.