ライフサイエンスコーパス: Rieger syndrome

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1 t occur with aniridia or as part of Axenfeld-Rieger syndrome.

2 2 gene dose plays a central role in Axenfeld-Rieger syndrome.

3 in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.

4 ally explain the phenotypic variation within Rieger syndrome.

5 letal abnormalities observed in the Axenfeld-Rieger syndrome.

6 llele have eye abnormalities consistent with Rieger syndrome.

7 isms underlying the developmental defects in Rieger syndrome.

8 the Pitx2 homeobox gene have been linked to Rieger syndrome.

9 a panel of seven unrelated individuals with Rieger syndrome.

10 , mutations have been identified in Axenfeld-Rieger syndrome, a disorder characterized by anterior se

11 main transcription factor that is mutated in Rieger syndrome, a haploinsufficiency disorder affecting

12 tified as the gene responsible for the human Rieger syndrome, an autosomal dominant condition that ca

13 Mutations in PITX2 cause some cases of Rieger syndrome, an autosomal dominant disorder affectin

14 Rieger syndrome, an autosomal dominant disorder, include

15 in the human PITX2 gene are responsible for Rieger syndrome, an autosomal dominant disorder.

16 he human Ptx2 homologue a candidate gene for Rieger syndrome, an autosomal-dominant disorder with var

17 al of the same organ systems are involved in Rieger syndrome and EDVI.

18 umbilical region development as evidenced by Rieger syndrome and iris hypoplasia phenotypes, resultin

19 protein is mutated in patients with Axenfeld-Rieger syndrome and is involved in the development of mu

20 es a better understanding of the etiology of Rieger syndrome and may extend to other PITX-sensitive d

21 in transcription factor that is defective in Rieger syndrome and shows a striking leftward developmen

22 inal PITX2 mutation associated with Axenfeld-Rieger syndrome (ARS) demonstrates reduced phosphorylati

23 Axenfeld-Rieger syndrome (ARS) patients with PITX2 point mutation

24 Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormaliti

25 Mutations in PITX2 associated with Axenfeld-Rieger syndrome (ARS) provided the first link of this ho

26 ations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, an

27 PITX2 mutations are associated with Axenfeld-Rieger syndrome (ARS).

28 The Rieger syndrome causing PITX2 mutant T68P fails to induc

29 region where the autosomal dominant disorder Rieger syndrome has been previously mapped by linkage.

30 The pitx2 homeobox gene, which is mutated in Rieger syndrome, has been proposed to be the effector mo

31 red-related homeobox gene that is mutated in Rieger syndrome I, is the earliest known marker of oral

32 1 missense mutation observed in the Axenfeld-Rieger syndrome impairs Gli2-Foxc1 association as well a

33 Analysis of the residues mutated in Rieger syndrome indicates that many of these residues ar

34 Rieger syndrome is a genetically and phenotypically hete

35 The Rieger syndrome is an autosomal dominant disease charact

36 Rieger syndrome is an autosomal-dominant developmental d

37 Axenfeld-Rieger syndrome is an autosomal-dominant disorder caused

38 Rieger syndrome is an autosomal-dominant human disorder

39 Because Axenfeld-Rieger syndrome is autosomal dominant and affects develo

40 Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1

41 igree, we have identified a second locus for Rieger syndrome located on chromosome 13q14.

42 ted with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents cli

43 tations were detectable in over 100 cases of Rieger syndrome or in individuals with related ocular di

44 A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic

45 Rieger syndrome (RIEG) is an autosomal-dominant human di

46 omeobox gene involved in the pathogenesis of Rieger syndrome, RIEG1 , and its mouse homolog, Rieg1 .

47 ed to be a candidate gene for those cases of Rieger syndrome that cannot be associated with mutations

48 is the gene mutated in the haploinsufficient Rieger Syndrome type 1 that includes dental, ocular and

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