ライフサイエンスコーパス: Apert

1 Apert syndrome (AS) is characterized by craniosynostosis

2 Apert syndrome (AS) is one of the most severe craniosyno

3 Apert syndrome is a distinctive human malformation chara

4 Apert syndrome is an autosomal dominant disorder charact

5 Apert syndrome results from one or other of two specific

6 Apert syndrome, characterized in addition by syndactyly

7 he parental origin of the new mutation in 57 Apert families: in every case, the mutation arose from t

8 have reassessed coronal suture fusion in an Apert Fgfr2 (S252W) mouse model.

9 ions in Crouzon, Jackson-Weiss, Pfeiffer and Apert syndromes have been reported in the FGFR2 extracel

10 o253Arg) previously reported in Pfeiffer and Apert syndromes, respectively.

11 ecificity of ligand binding to wild-type and Apert mutant receptors have been analysed using surface

12 nteraction of FGF ligands with wild-type and Apert-type mutant FGFR2 ectodomains in solution.

13 Wild-type and Apert-type receptors form a complex with FGF ligands wit

14 ent FGFR signaling-related diseases, such as Apert syndrome and cancer.

15 in the receptor tyrosine kinases that cause Apert syndrome and MEN2B.

16 ting mutations in FGFR2 and FGFR3 that cause Apert Syndrome, Beare-Stevenson Syndrome, hypochondropla

17 servation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double subst

18 l origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3).

19 BRCA2, and one to the Alu element in FGFR2 (Apert syndrome).

20 on could explain the paternal age effect for Apert syndrome and other genetic conditions.

21 are disorders related to paternal age (e.g., Apert syndrome, achondroplasia), this process is known a

22 In Apert syndrome, characterised by syndactyly of the hands

23 standing the basis of respiratory defects in Apert syndrome.

24 hy as the main cause of visual impairment in Apert's and Crouzon syndromes.

25 vere than the limb abnormalities observed in Apert syndrome.

26 phenocopied the symphalangism that occurs in Apert syndrome and the number of affected joints was dep

27 al origin of mutations have been reported in Apert syndrome (AS).

28 presented for a range of disorders including Apert's syndrome and achondroplasia.

29 A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplas

30 iety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon

31 Among them is Apert syndrome, one of the most severe forms of craniosy

32 s Fgfr2b in mesenchymal tissues and manifest Apert syndrome-like phenotypes.

33 Most Apert syndrome patients harbor a single amino acid mutat

34 n, aneuploidies/diploidies, FGFR2 mutations (Apert syndrome), or sex ratio in this cohort.

35 Here, we report on the C758G de novo Apert syndrome mutation.

36 ws post-natal assessment of other aspects of Apert syndrome.

37 ponsible for virtually all sporadic cases of Apert syndrome.

38 malformations, including Crouzon, Pfeiffer, Apert, Jackson-Weiss, Beare-Stevenson cutis gyrata, and

39 GFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectivel

40 of Fgfr2 (Fgfr2(S252W)) completely prevents Apert-like syndrome in mice.

41 r the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells.

42 This phenotype has strong parallels to some Apert's and Pfeiffer's syndrome patients.

43 These findings indicate that Apert syndrome arises as a result of increased affinity

44 This reveals that Apert mutations, compared with wild-type, exhibit a sele

45 ections of the potential source gene for the Apert's Alu with its endogenous flanking genomic sequenc

46 te a novel mechanism of suture fusion in the Apert Fgfr2(S252W) mouse model.

47 n-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure.

48 significant role in the pathogenesis of the Apert syndrome phenotype.

49 However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfei

50 d craniofacial abnormalities associated with Apert syndrome.

51 lence of other malformations associated with Apert syndrome.

52 ution results in a phenotype consistent with Apert syndrome.

53 ations, and risk of fathering offspring with Apert syndrome that may vary across cohorts, but with no

54 lysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation