ライフサイエンスコーパス: Gorlin syndrome

1 dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome).

2 on, fulfilling diagnostic criteria for Meier-Gorlin syndrome.

3 fied in SUFU-related, but not PTCH1-related, Gorlin syndrome.

4 s have found a 5% risk of medulloblastoma in Gorlin syndrome.

5 ecurrent basal-cell carcinoma and those with Gorlin syndrome.

6 three principle tumors associated with human Gorlin syndrome.

7 ence that SUFU mutations can cause classical Gorlin syndrome.

8 n patients with symptoms similar to those of Gorlin syndrome.

9 95% CI, 25.7% to 53.7%) for patients without Gorlin syndrome.

10 ephalic primordial dwarfism resembling Meier-Gorlin syndrome.

11 ch-1(+/-) mice, a model of the human disease Gorlin syndrome.

12 olog of a Drosophila gene, patched, underlie Gorlin syndrome.

13 tochastic (cancer) abnormalities observed in Gorlin syndrome.

14 ne have somewhat different manifestations of Gorlin syndrome.

15 ese genes have been proposed as the cause of Gorlin syndrome.

16 ation in the Orc6 C-terminus linked to Meier-Gorlin syndrome, a dwarfism disorder, impedes proper rec

17 e families fulfilled diagnostic criteria for Gorlin syndrome, although none had odontogenic jaw kerat

18 reas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medullobl

19 A man with Gorlin syndrome and innumerable cutaneous BCCs presented

20 hibitors have been reported in patients with Gorlin syndrome and nonmetastatic BCCs, but refractory d

21 velop many of the features characteristic of Gorlin syndrome and that they exhibit a high incidence o

22 of resistance to SMO inhibitors for not only Gorlin syndrome but also sporadic basal cell carcinomas.

23 That Gorlin syndrome can be caused by null mutations (deletio

24 udy redefines the risk of medulloblastoma in Gorlin syndrome, dependent on the underlying causative g

25 Cdc45 mutation found in patients with Meier-Gorlin syndrome disrupts the functional interaction with

26 Meier-Gorlin syndrome (ear, patella and short-stature syndrome

27 cing of SUFU in 23 additional PTCH1-negative Gorlin syndrome families identified a SUFU mutation in a

28 ith identical alterations (deletions) of the Gorlin syndrome gene have somewhat different manifestati

29 rane conductance regulator, p53, BRCA-1, and Gorlin syndrome genes in the nuclei of cultured cells or

30 Gorlin syndrome (GS) is a rare genetic disorder characte

31 Gorlin syndrome (GS) is an autosomal dominant disorder w

32 The study of Gorlin syndrome has shed light on the etiology of cardia

33 asal cell carcinomas (BCCs) in patients with Gorlin syndrome have been reported to be extremely sensi

34 We report a case of Gorlin syndrome in a patient with metastatic BCC refract

35 trial in patients with the basal-cell nevus (Gorlin) syndrome indicating that the smoothened inhibito

36 Gorlin syndrome is an autosomal dominant disorder charac

37 id basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant dis

38 Meier-Gorlin syndrome (MGS) is a form of primordial dwarfism l

39 Meier-Gorlin syndrome (MGS) is a genetically heterogeneous pri

40 the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad o

41 as been implicated in the aetiology of Meier-Gorlin syndrome (MGS), a form of primordial dwarfism, an

42 Together, our results suggest that Meier-Gorlin syndrome mutations in Orc6 impair the formation o

43 Meier-Gorlin syndrome mutations that disrupt Cyclin E-CDK2 kin

44 well as molecular defects observed in Meier-Gorlin Syndrome mutations.

45 us germline PTCH1 mutations are causative of Gorlin syndrome (naevoid basal cell carcinoma), but dete

46 omas, including those with basal-cell nevus (Gorlin) syndrome, need extended treatment.

47 In rare cases, patients with Gorlin syndrome on long-term inhibitor therapy will deve

48 or-resistant tumor arising in a patient with Gorlin syndrome on suppressive SMO inhibitor for nearly

49 HH pathway activation compared with naive or Gorlin syndrome patient BCCs.

50 epithelial stem (NES) cells generated from a Gorlin syndrome patient carrying a germline mutation in

51 hat the Orc1 mutations present in some Meier-Gorlin syndrome patients contribute to the pronounced mi

52 transplantation of NES cells generated from Gorlin syndrome patients, who are predisposed to medullo

53 fected by Orc1 mutations identified in Meier-Gorlin syndrome patients.

54 ss at this location is common in tumors from Gorlin syndrome patients.

55 Both have typical features of Gorlin syndrome plus additional findings, including ment

56 Using a mouse model of Gorlin syndrome (Ptc1(+/lacZ) mice), we found that overe

57 y is causative of virtually all sporadic and Gorlin syndrome-related basal cell carcinomas (BCCs), wi

58 Developmental defects in Gorlin syndrome resemble those induced by ionizing radia

59 FACC1 genes can be ruled out as the cause of Gorlin syndrome, since the two patients described have n

60 ases, individuals have a hereditary disease, Gorlin syndrome, that predisposes to multiple skin tumor

61 basal cell nevus carcinoma syndrome (BCNS or Gorlin syndrome), which is characterized by developmenta

62 ccurring in medulloblastoma of patients with Gorlin syndrome, which increases Sufu turnover through F

63 dition, basal cell nevus syndrome (BCNS), or Gorlin syndrome, which is characterized by developmental

64 On the basis of studies in patients with Gorlin syndrome who harbor germline PTCH1 mutations and

65 The second case is that of a patient with Gorlin syndrome with a locally advanced basal cell carci

66 tes, whereas tumors arising in patients with Gorlin syndrome with germline Patched (PTCH1) alteration

67 our unrelated individuals from families with Gorlin syndrome with no PTCH1 mutations found by Sanger

68 the causative mutations in individuals with Gorlin syndrome without PTCH1 mutations.