The molecular mechanisms of congenital hypofibrinogenaemia

Congenital hypofibrinogenaemia is characterized by abnormally low levels of fibrinogen and is usually caused by heterozygous mutations in the fibrinogen chain genes (, and ). However, it does not usually result in a clinically significant condition unless inherited in a homozygous or compound heterozygous state, where it results in a severe bleeding disorder, afibrinogenaemia. Various protein and expression studies have improved our understanding of how mutations causing hypo- and afibrinogenaemia affect secretion of the mature fibrinogen molecule from the hepatocyte. Some mutations can perturb chain assembly as in the 153 Cys Arg case, while others such as the B Leu Arg and the B414 Gly Ser mutations allow intracellular hexamer assembly but inhibit protein secretion. An interesting group of mutations, such as 284 Gly Arg and 375 Arg Trp, not only cause hypofibrinogenaemia but are also associated with liver disease. The nonexpression of these variant chains in plasma fibrinogen is due to retention in the endoplasmic reticulum, which in turn leads to hypofibrinogenaemia.Received 17 December 2003; received after revision 19 January 2004; accepted 21 January 2004     

Chromosomes and giemsa-bands of the Idaho spotted ground squirrel,Spermophilus brunneus (Howell)

-Spermophilus brunneus . , 13 18 ,S. brunneus S. townsendii mollis (2n=38) , , ; ;S. brunneus . S. brunneus , Spermophilus.

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Supported by National Science Foundation Grants No. GB32114X and No. GB 29131X, and the Sprague Foundation. We thankD. Pozin for technical assistance.     

The role of the pentose-phosphate pathway in adjustment of the heart to a high load and the development of myocardial hypertrophy

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Contribution to the X-ray diffraction methods for precision determinations of polycrystal lattice parameters

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Chromosomes and some issues of the evolution of the ground squirrel genusCitellus (Rodentia: Sciuridae)

Citellus (s. str.) relictus, C. dauricus C. pygmaeus (2=36, NF=72). . (Colobotis) erythrogenys . fulvus -. . (Urocitellus) undulatus (2n=32, NF=64) . columbianus. Citellus, , Citellus, . , .     

Correlation between sensitivity to trypaflavine and DNA base composition in mutants ofBacterium paracoli 5099

Bacterium paracoli 5099 , , .     

Mass spectrometric determination of the amino acid sequence in cystine- and cysteine-containing peptides

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Studies on rII region of T2L phage

rII T2L , rII T4B. rII T2L rII T4B. T2L rII T4B.     

G-band patterns as chromosomal markers,and the interpretation of chromosomal evolution in wild sheep (Ovis)

- . Ovis musimon (2n=54) O. orientalis (2n=54) - - -O. canadensis mexicana (2n=54) O. musimon x O. canadensis ₁₂ - . ₂ 27 . - .

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Supported by National Science Foundation Grant no. GB 32114X and the Sprague Foundation. We thank Dr. T. C. Hsu for assistance in making the chromosome preparations and for advice and encouragement. The Trustees of the Rachelwood Wildlife Research Preserve generously allowed the biopsy of specimens of their custody. Mr.Arthur Popham kindly provided the specimens from Iran while Dr.R. M. Robinson obtained biopsies from the desert sheep.     

Mass spectrometric determination of the amino acid sequence in peptides: Desulfurization of sulfur-containing peptides

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Topochemical approach to the structure-activity relation. Retroenantio-Gly5,10-gramicidin S

, . , -Gly^5,10- , Gly^5,10- .     

Magnug reflexex of the chest musculature in man

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Separation of rat liver mitochondrial amine oxidases

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The stimulating action of gastrin pentapeptide and histamine on adenyl cyclase activity in rat stomach

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Artificial lung ventilation during diaphragmatic paralysis

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Suppression of antibody formation against sendai virus in the SV40 and adenovirus 16 infected hamsters

SV₄₀ 16. 9 . . .     

IdentifyingY chromosome in interphase nuclei of the human brain

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The effect of chloramphenicol analogs on protein biosynthesis in a cell-freeEscherichia coli B system

a aaa a aa aa a a E. coli aa, a aa aa a , a a aa - a .

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Laboratory of Biological Investigations.

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Laboratory for Chemistry of Antibiotics.     

The participation of kinins in the pathogenesis of early disturbances in the skin capillary permeability in localβ-ray irradiation

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X-ray research of polycrystals. X-ray diffraction methods for precision determinations of polycrystal lattice parameters over unsolved double lines

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