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 ecurrent basal-cell carcinoma and those with Gorlin syndrome.

3 three principle tumors associated with human Gorlin syndrome.

4 ence that SUFU mutations can cause classical Gorlin syndrome.

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

6 ephalic primordial dwarfism resembling Meier-Gorlin syndrome.

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

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

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

10 tochastic (cancer) abnormalities observed in Gorlin syndrome.

11 ne have somewhat different manifestations of Gorlin syndrome.

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

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

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

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

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

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

18 A man with Gorlin syndrome and innumerable cutaneous BCCs presented

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

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

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

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

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

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

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

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

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

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

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

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

31 Gorlin syndrome is an autosomal dominant disorder charac

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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