ライフサイエンスコーパス: Lesch

1 Lesch-Nyhan disease (LND) is an inherited disorder cause

2 Lesch-Nyhan disease (LND) is an X-linked genetic disorde

3 Lesch-Nyhan disease (LND) is caused by congenital defici

4 Lesch-Nyhan disease (LND) is caused by deficiency of the

5 Lesch-Nyhan Disease (LND) is the result of mutations in

6 Lesch-Nyhan disease (LND), caused by a deficient salvage

7 Lesch-Nyhan disease and its attenuated variants are caus

8 Lesch-Nyhan disease is a neurogenetic disorder caused by

9 Lesch-Nyhan disease is a rare, devastating, X-linked rec

10 Lesch-Nyhan disease is an X-linked recessive disorder th

11 Lesch-Nyhan syndrome encompasses a host of neurological

12 f 78 prior reports describing a total of 127 Lesch-Nyhan disease variants.

13 pathological conditions such as cholera and Lesch-Nyhan syndrome.

14 A deficiency states such as Parkinsonism and Lesch-Nyhan disease.

15 pectively model Parkinson's disease (PD) and Lesch-Nyhan syndrome (LNS).

16 h inborn errors of purine metabolism such as Lesch-Nyhan syndrome, and metabolic diseases with a life

17 alvage pathway, and mutations in HPRT1 cause Lesch-Nyhan disease.

18 at directly contacts the Mg(2+) ions, causes Lesch-Nyhan syndrome (HGPRT(Kinston), D193N).

19 d neurometabolic conditions, such as classic Lesch-Nyhan syndrome.

20 nd of the spectrum are patients with classic Lesch-Nyhan disease and the full clinical phenotype.

21 ruary 1, 2009, issue of Genes & Development, Lesch and colleagues describe a new transcription factor

22 ing genes: TOR1A, THAP1, SGCE, KMT2B, HPRT1 (Lesch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria

23 of non-dopaminergic neuronal development in Lesch-Nyhan syndrome.

24 from germ-line HPRT mutations identified in Lesch-Nyhan syndrome or hyperuricemia patients.

25 amine (DA) deficiency has been implicated in Lesch-Nyhan disease (LND), a genetic disorder that is ch

26 emical abnormalities in adulthood that mimic Lesch-Nyhan disease, schizophrenia, and other developmen

27 act on the use of female hiPSCs for modeling Lesch-Nyhan syndrome.

28 RT) cause the intractable neurodevelopmental Lesch-Nyhan disease (LND) associated with aberrant devel

29 ical manifestations of the largest cohort of Lesch-Nyhan disease variants evaluated to date, with 46

30 ibosyltransferase (HGPRTase) is the locus of Lesch-Nyhan syndrome, the activator of the prodrugs 6-me

31 s with 6-hydroxydopamine (6-OHDA; a model of Lesch-Nyhan syndrome (LNS)) or vehicle (unlesioned rats)

32 me (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome.

33 ute to their toxicity and to the symptoms of Lesch-Nyhan syndrome.

34 e (HPRT) deficiency in humans results in the Lesch-Nyhan syndrome which is characterized, among other

35 a disorder in the HPRT gene (leading to the Lesch-Nyhan syndrome) is unique to human, chimpanzee, an

36 behavioral abnormalities associated with the Lesch-Nyhan syndrome as previously suggested.

37 the behavioral symptoms associated with the Lesch-Nyhan syndrome.

38 rited mutations in the human HPRT leading to Lesch-Nyhan syndrome (D193N) or gout (S103R or S109L), a

39 are unlikely to contribute substantially to Lesch-Nyhan syndrome burden.

40 These factors are not unique to Lesch-Nyhan disease, and are relevant to most other gene

41 l to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder.

42 suppress HGPRT activity are associated with Lesch-Nyhan disease (LND), a rare X-linked metabolic and

43 ic regions of the brains of 12 patients with Lesch-Nyhan disease (age, 10 to 20 years) and 15 healthy

44 Patients with Lesch-Nyhan disease have abnormally few dopaminergic ner

45 tegmentum; 57 percent) in the patients with Lesch-Nyhan disease than in the controls.