Drugs: infectious diseases

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis
G R Chandak, M M Idris, D N Reddy, S Bhaskar, P V J Sriram, L Singh

Journal of Medical Genetics May 2002, 39 (5) 347-351; DOI: 10.1136/jmg.39.5.347
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter

Journal of Medical Genetics Apr 2005, 42 (4) 350-357; DOI: 10.1136/jmg.2004.022749
Prevalence of mitochondrial gene mutations among hearing impaired patients
Shin-ichi Usami, Satoko Abe, Jiro Akita, Atsushi Namba, Hideichi Shinkawa, Masanori Ishii, Satoshi Iwasaki, Tomoyuki Hoshino, Juichi Ito, Katsumi Doi, Takeshi Kubo, Takashi Nakagawa, Sohtaro Komiyama, Tetsuya Tono, Shizuo Komune

Journal of Medical Genetics Jan 2000, 37 (1) 38-40; DOI: 10.1136/jmg.37.1.38
Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy
Y P Bao, S Sarkar, E Uyama, D C Rubinsztein

Journal of Medical Genetics Jan 2004, 41 (1) 47-51; DOI: 10.1136/jmg.2003.014548
Association between a polymorphism in the human programmed death-1 (PD-1) gene and cytomegalovirus infection after kidney transplantation
Thomas W Hoffmann, Jean-Michel Halimi, Mathias Büchler, Florence Velge-Roussel, Alain Goudeau, Azmi Al-Najjar, Jean-Frédéric Marliere, Yvon Lebranchu, Christophe Baron

Journal of Medical Genetics Jan 2010, 47 (1) 54-58; DOI: 10.1136/jmg.2009.068841
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients
C Grayson, J P Chapple, K R Willison, A R Webster, A J Hardcastle, M E Cheetham

Journal of Medical Genetics Jan 2002, 39 (1) 62-67; DOI: 10.1136/jmg.39.1.62
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
F J del Castillo, M Rodríguez-Ballesteros, Y Martín, B Arellano, J Gallo-Terán, C Morales-Angulo, R Ramírez-Camacho, M Cruz Tapia, J Solanellas, A Martínez-Conde, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo

Journal of Medical Genetics Aug 2003, 40 (8) 632-636; DOI: 10.1136/jmg.40.8.632
Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis
D Zuccarello, D C Salpietro, S Gangemi, V Toscano, M V Merlino, S Briuglia, G Bisignano, M Mangino, R Mingarelli, B Dallapiccola

Journal of Medical Genetics Sep 2002, 39 (9) 671-675; DOI: 10.1136/jmg.39.9.671
Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection
R Dawes, B Hennig, W Irving, S Petrova, S Boxall, V Ward, D Wallace, D C Macallan, M Thursz, A Hill, W Bodmer, P C L Beverley, E Z Tchilian

Journal of Medical Genetics Aug 2006, 43 (8) 678-684; DOI: 10.1136/jmg.2005.040485
Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis
L I Holla, D Buckova, A Fassmann, T Halabala, A Vasku, J Vacha

Journal of Medical Genetics Nov 2002, 39 (11) 844-848; DOI: 10.1136/jmg.39.11.844

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