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Items: 1 to 20 of 98

1.

Examination of tetrahydrobiopterin pathway genes in autism.

Schnetz-Boutaud NC, Anderson BM, Brown KD, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL.

Genes Brain Behav. 2009 Nov;8(8):753-7. doi: 10.1111/j.1601-183X.2009.00521.x. Epub 2009 Jul 14.

2.
4.

Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes.

Guhathakurta S, Singh AS, Sinha S, Chatterjee A, Ahmed S, Ghosh S, Usha R.

Neurochem Int. 2009 Dec;55(8):754-9. doi: 10.1016/j.neuint.2009.07.008. Epub 2009 Jul 30.

PMID:
19647026
5.

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Dudesek A, Röschinger W, Muntau AC, Seidel J, Leupold D, Thöny B, Blau N.

Eur J Pediatr. 2001 May;160(5):267-76.

PMID:
11388593
6.

Genetic engineering of Escherichia coli for production of tetrahydrobiopterin.

Yamamoto K, Kataoka E, Miyamoto N, Furukawa K, Ohsuye K, Yabuta M.

Metab Eng. 2003 Oct;5(4):246-54.

PMID:
14642352
7.

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

Korner G, Scherer T, Adamsen D, Rebuffat A, Crabtree M, Rassi A, Scavelli R, Homma D, Ledermann B, Konrad D, Ichinose H, Wolfrum C, Horsch M, Rathkolb B, Klingenspor M, Beckers J, Wolf E, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Blau N, Rozman J, Thöny B.

J Inherit Metab Dis. 2016 Mar;39(2):309-19. doi: 10.1007/s10545-015-9909-6. Epub 2016 Feb 1.

PMID:
26830550
8.

Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.

Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.

Chin Med J (Engl). 2002 Feb;115(2):217-21. Erratum in: Chin Med J (Engl) 2002 Jun;115(6):809.

PMID:
11940335
9.

Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.

Jacob S, Brune CW, Carter CS, Leventhal BL, Lord C, Cook EH Jr.

Neurosci Lett. 2007 Apr 24;417(1):6-9. Epub 2007 Feb 3.

10.

Albino (al) is a tetrahydrobiopterin (BH4)-deficient mutant of the silkworm Bombyx mori.

Fujii T, Abe H, Kawamoto M, Katsuma S, Banno Y, Shimada T.

Insect Biochem Mol Biol. 2013 Jul;43(7):594-600. doi: 10.1016/j.ibmb.2013.03.009. Epub 2013 Apr 6.

PMID:
23567588
11.

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA.

Am J Hum Genet. 2005 Sep;77(3):377-88. Epub 2005 Jul 15.

12.

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.

Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado LA, Caballero-Andaluz R, Diego-Otero Yd, Guzmán-Alvarez G, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B.

World J Biol Psychiatry. 2013 Sep;14(7):516-27. doi: 10.3109/15622975.2011.602719. Epub 2012 Mar 8.

PMID:
22397633
13.

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, Lindenbaum P, Benajjou A, Fontaine K, Vazart C, Gesnouin P, Brooks P, Hager J.

BMC Med Genet. 2007 Dec 6;8:74.

14.

Serotonin transporter promoter variants: Analysis in Indian autistic and control population.

Guhathakurta S, Ghosh S, Sinha S, Chatterjee A, Ahmed S, Chowdhury SR, Gangopadhyay PK, Ghosh S, Singh M, Usha R.

Brain Res. 2006 May 30;1092(1):28-35. Epub 2006 May 3.

PMID:
16674932
15.

Examination of association of genes in the serotonin system to autism.

Anderson BM, Schnetz-Boutaud NC, Bartlett J, Wotawa AM, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL.

Neurogenetics. 2009 Jul;10(3):209-16. doi: 10.1007/s10048-009-0171-7. Epub 2009 Jan 28.

16.

Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice.

Sumi-Ichinose C, Urano F, Kuroda R, Ohye T, Kojima M, Tazawa M, Shiraishi H, Hagino Y, Nagatsu T, Nomura T, Ichinose H.

J Biol Chem. 2001 Nov 2;276(44):41150-60. Epub 2001 Aug 21.

18.

Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population.

Li J, Liu J, Zhao L, Ma Y, Jia M, Lu T, Ruan Y, Li Q, Yue W, Zhang D, Wang L.

Prog Neuropsychopharmacol Biol Psychiatry. 2013 Jul 1;44:226-32. doi: 10.1016/j.pnpbp.2013.01.004. Epub 2013 Jan 17.

PMID:
23333377
19.
20.

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B.

Hum Mutat. 2000;16(1):54-60.

PMID:
10874306

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