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     HDL familial hypercholesterolemia

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dept. of molecular genetics


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Selected references on familial hypercholesterolemia

  Papers on FH genetics in Russia
(in English, unless specified): in chronological order.

 

  1. Mandelshtam M.Yu., Sasina L.K., Schwartzman A.L. DNA-diagnostics of familial hypercholesterolemia// Biopolymery i kletka (Biopolymers and cell). – 1990. – Vol.6, N 1. – P. 56-63 (in Russian, with English summary).

  2. Dolzhanskaya N.B., Mandelshtam M.Yu., Patkin E.L., Kuznetsov A.S., Vikhanskaya F.L., Krutilina R.I., Gaitskhoki V.S. A model for genetic correction of family hypercholesterolemia// Biopolymery i kletka (Biopolymers and cell). – 1990. – Vol.6, N 2. – P. 31-35 (in Russian, with English summary).

  3. Dolzhanskaya N.B., Todorova M.T., Schwatzman A.L. The production of the antisense construction for the human low density lipoprotein receptor cDNA// Biopolymery i kletka (Biopolymers and cell). – 1991. – Vol. 7, N 3. – P. 35-37 (in Russian, with English summary).

  4. Mandelshtam M.Ju., Lipovetskyi B.M., Schwartzman A.L., Gaitskhoki V.S. A novel deletion in the low density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg// Human Mutation. - 1993. - Vol.2, N 4. - P. 256- 260.

  5. Mandel’shtam M.Yu., Lipovetskii B.M., Schvartsman A.L., Gaitskhoki V.S. Molecular heterogeneity of familial hypercholesterolemia in the St. Petersburg population// Russian Journal of Genetics. – 1995. – Vol. 31, N 4. – P. 447-452 (Translated from Genetika. – 1995. – Vol.31, N 4. – P. 521 – 527).

  6. Lipovetsky B.M., Mandelshtam M.Yu., Gaitskhoki V.S., Vasilyeva L.E. Clinicogenetic aspects of family hypercholesterolemia and their practical implications// Terapevticheskii Arkhiv (Therapeutic Archive). – 1996. – Vol.68, N 1. _ P.24-29 (in Russian, with English summary).

  7. Shevtsov S.P. The APOB gene encoding putative low density lipoprotein receptor binding domain of the ApoB-100 protein shows no DNA polymorphisms //Rus. J. Genet. – 1996. – Vol. 32. – P. 261 – 263 (Translated from Genetika Vol. 32, N 2. – P. 295 – 297).

  8. Runova O.L., Mandelshtam M.Ju., Golubkov V.I., Sukonina V.E., Denisenko A.D., Gaitskhoki V.S. Expression of cDNA fragment encoding ligand-binding domain of human low density lipoprotein receptor in Escherichia coli cells//Biochemistry (Moscow). – 1997. – Vol.62, N 8. – P. 890-897 (Translated from Biokhimiya. – 1997. – Vol. 62, N 8. – P. 1037 –1045).

  9. Mandelshtam M., Chakir Kh., Shevtsov S., Golubkov V., Skobeleva N., Lipovetsky B., Konstantinov V., Denisenko A., Gaitskhoki V., Schwartz E. Prevalence of Lithuanian mutation among St.Petersburg Jews with familial hypercholesterolemia// Human Mutation. – 1998. - Vol. 12, N 4. – P. 255-258.

  10. Lipovetsky B.M., Mandelshtam M.Yu., Vasilyeva L.E., Shakir Kh.,Golubkov V.I., Shevtsov S.P., Skobeleva N.A., Konstantinov V.O., Denisenko A.D., Gaitskhoki V.S., Shvarts E.I. Prevalence and symptoms of “Lithuanian” mutation in Jews with hyperlipidemia type II and their response to fluvastatin treatment//Kardiologiya (Cardiology). – 1998. – Vol.38 N 5. – P.39-41 (in Russian, no English summary).

  11. Chakir Kh., Skobeleva N.A., Shevtsov S.P., Konstantinov V.O., Denisenko A.D., Schwartz E.I. Two novel Slavic point mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia// Mol. Genet. Metabol. - 1998. - Vol. 63. - P. 31-34.

  12. Mandelshtam M.Ju., Golubkov V.I., Schur Yu.A., Lipovetsky B.M., Gaitskhoki V.S. A novel mutation 347delGCC in the human low density lipoprotein receptor gene// Russian Journal of Bioorganic Chemistry. - 1998. - Vol. 24, N 10. – P. 710-711 (Translated from Bioorganicheskaya Khimiya – 1998. - Vol. 24, N 10. – P. 798-800).

  13. Chakir Kh., Mandelshtam M.Ju., Shevtsov S.P., Golubkov V.I., Skobeleva N.A., Shur Y.A., Zakharova F.M., Lipovetskyi B.M., Konstantinov V.O., Denisenko A.D., Gaitskhoki V.S., Schwartz E.I. Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St.Petersburg familial hypercholesterolemia// Mol. Genet. Metabol. - 1998. - Vol.65. - P. 311-314.

  14. Krapivner SR, Malyshev PP, Rozhkova TA, Poltaraus AB, Kukharchuk VV, Bochkov VN: Application of DNA analysis for differential diagnosis of familial hypercholesterolemia and familial defect of apolipoprotein B-100 // Ter. Arkh. – 2000. – Vol. 72. – P. 9 – 12.(available only in Russian).

  15. Durst R., Colombo R., Shpitzen S., Avi L.B., Friedlander Y., Wexler R., Raal F.J., Marais D.A., Defesche J.C., Mandelshtam M.Y., Kotze M.J., Leitersdorf E., Meiner V. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hyperholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews// Am. J. Hum. Genet. – 2001. - Vol.68. - P. 1172-1188. Free fulltext 1172.pdf (188Kb)

  16. Tatishcheva Yu.A., Mandelshtam M.Yu., Golubkov V.I., Lipovetsky B.M., Gaitskhoki V.S. Four new mutations and two polymorphic variants of the low-density lipoprotein receptor gene in familial hypercholesterolemia patients from St. Petersburg// Russian Journal of Genetics. - 2001. – Vol. 37, N 9. – P. 1082-1086 (Translated from Genetika – 2001. – Vol.37, N 9. – P.1290-1295). Free fulltext 1082.pdf (135 Kb)

  17. Krapivner S.R., Malyshev P.P., Poltaraus A.B., Kukharchuk V.V., Bochkov V.N. A case of familial hypercholesterolemia caused by a novel mutation D461Y in the low density lipoprotein receptor gene// Kardiologiya (Cardiology). - 2001. – Vol. 41, N1. – P. 92-94 (in Russian, no English summary).

  18. Zakharova F.M., Golubkov V.I., Mandelshtam M.Ju., Lipovetskii B.M., Gaitskhoki V.S. Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St.Petersburg// Russian Journal of Bioorganic Chemistry. - 2001. - Vol. 27, N 5. – P. 349-351 (Translated from Bioorganicheskaya Khimiya – 2001. - Vol. 27, N 5. – P. 393-396)

  19. Meshkov A.N., Stambolsky D.V., Krapivner S.R., Bochkov V.N., Kukharchuk V.V., Malyshev P.P. Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia // Kardiologiia (Cardiology). – 2004. – Vol. 44, N 9. – P. 58 – 61 (in Russian, with English summary, p. 58).

  20. Zakharova F.M., Damgaard D., Mandelshtam M.Y., Golubkov V.I., Nissen P.H., Nilson G.G., Stenderup A., Lipovetsky B.M., Konstantinov V.O., Denisenko A.D., Vasilyev V.B., Faergeman O. Familial hypercholesterolemia in St.Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia //BMC Med. Genet. – 2005. – Vol. 6, No. 1. – P. 6 Fulltext PDF 656KB

  21. Meshkov A.N. Clinical and molecular genetic characteristic of low density lipoprotein receptor gene mutations in patients with familial hypercholesterolemia from Russia // Ph. D. thesis autoreferate. – Moscow, 2006. – 22 pp. (available only in Russian).

  22. Zakharova F.M., Tatishcheva Yu.A., Golubkov V.I., Lipovetsky B.M., Konstantinov V.O., Denisenko A.D., Faergeman O., Vasilyev V.B., Mandelshtam M.Yu. Familial hypercholesterolemia in St.-Petersburg: variety of mutations argues against strong founder effect // Russian Journal of Genetics. – 2006 (in press).

All references:

  1. The most important reviews and original papers on FH in the English-language literature: in alphabetical order.
  2. Reviews on genetics of FH in Russia (in English and Russian)
     
  3. Papers on FH genetics in Russia (in English, unless specified): in chronological order.
  4. Handbooks on dyslipidemia, including FH; literature on FH for non-specialists (in Russian mainly): in alphabetical order.

 

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