ライフサイエンスコーパス: X-linked mental retardation

1 Mutations of PHF8 are associated with X-linked mental retardation.

2 mutations of the protein are associated with X-linked mental retardation.

3 e BMP signaling pathway, are associated with X-linked mental retardation.

4 tein (Rho-GAP) whose loss of function causes X-linked mental retardation.

5 ine/threonine kinase, which is implicated in X-linked mental retardation.

6 ion, thereby contributing to SMCX-associated X-linked mental retardation.

7 ribute to the pathogenesis of RTT, autism or X-linked mental retardation.

8 ave been shown to underlie multiple forms of X-linked mental retardation.

9 several human monogenic disorders, including X-linked mental retardation.

10 Mutations in CASK cause X-linked mental retardation.

11 e mechanism of neuronal dysfunction in human X-linked mental retardation.

12 which is reportedly involved in nonsyndromic X-linked mental retardation.

13 ient and is a candidate gene for nonspecific X-linked mental retardation.

14 oreover, of the 69 known proteins mutated in X-linked mental retardation, 19 (28%) encode postsynapti

15 candidate gene in six patients that exhibit X-linked mental retardation, a heterogeneous development

16 -tagged affinity purification and identified X-linked mental retardation and alpha-thalassaemia syndr

17 eurodevelopmental disorders including severe X-linked mental retardation and autism.

18 tetraspanin coding sequence in subjects with X-linked mental retardation and epilepsy and did not ide

19 r (ARX) are associated with a diverse set of X-linked mental retardation and epilepsy syndromes in hu

20 The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically

21 JmjC-domain-containing protein implicated in X-linked mental retardation and epilepsy, possesses H3K4

22 We evaluated a kindred with X-linked mental retardation and epilepsy.

23 n multiple pathological disorders, including X-linked mental retardation and tumorigenesis.

24 and has been implicated in certain forms of X-linked mental retardation as well as in growth factor-

25 ATRX syndrome is characterized by X-linked mental retardation associated with alpha-thalas

26 athways have been identified in the field of X-linked mental retardation but many more still await id

27 Rett Syndrome (RTT) is a severe form of X-linked mental retardation caused by mutations in the g

28 A family with X-linked mental retardation characterized by severe ment

29 Coffin-Lowry Syndrome (CLS) is an X-linked mental retardation condition associated with sk

30 Fragile X syndrome is an X-linked mental retardation condition that usually is du

31 Mutation of PHF6, which results in the X-linked mental retardation disorder Borjeson-Forssman-L

32 re the cause of fragile X syndrome (FXS), an X-linked mental retardation disorder.

33 modeling proteins that is mutated in several X-linked mental retardation disorders.

34 duct of a recently cloned candidate gene for X-linked mental retardation, DXS6673E .

35 stinct from X-linked West syndrome and other X-linked mental retardation-epilepsy syndromes.

36 A candidate X-linked mental retardation gene and the transcription i

37 geting WDR5 for proteolysis dependent on the X-linked mental retardation gene, CUL4B.

38 Recent identification of novel X-linked mental retardation genes has identified compone

39 in the clinical and molecular delineation of X-linked mental retardation has outpaced progress in und

40 olecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH).

41 Both SAP102 and PAKs are associated with X-linked mental retardation in humans; thus, synapse for

42 domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with

43 The second-largest cause of X-linked mental retardation is a deficiency in creatine

44 nstrated that VCX-A, a protein implicated in X-linked mental retardation, is an RNA-binding protein t

45 FRAXE, the most common form of non-syndromic X-linked mental retardation, is caused by expansion of a

46 se loss of function has been associated with X-linked mental retardation (MR).

47 Nonsyndromic X-linked mental retardation (MRX) syndromes are clinical

48 Of 11 genes involved in nonspecific X-linked mental retardation (MRX), three encode regulato

49 s DXS983 and DXS1216, a region implicated in X-linked mental retardation (MRX).

50 ted protein (Daxx) and the alpha-thalassemia X-linked mental retardation protein (ATRX) as H3.3-assoc

51 rate that a physical interaction between the X-linked mental retardation protein oligophrenin-1 (OPHN

52 Here, we identify the X-linked mental retardation protein OPHN1 as a molecule

53 ty of neurodevelopmental disorders including X-linked mental retardation, psychiatric disorders, and

54 Fragile X syndrome, a form of X-linked mental retardation, results from the hyperexpan

55 in-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alp

56 regulates axon growth and is mutated in the X-linked mental retardation syndrome CRASH (acronym for

57 ene mutations are present in humans with the X-linked mental retardation syndrome CRASH (corpus callo

58 Mutations of human L1 cause an X-linked mental retardation syndrome termed CRASH (corpu

59 Mutations in the ATRX gene cause a severe X-linked mental retardation syndrome that is frequently

60 cot-Marie-Tooth neuropathy (MIM 302801), and X-linked mental retardation syndromes (MRX1, MIM 309530)

61 gene regions for torsion dystonia 3 and two X-linked mental retardation syndromes are included.

62 More than 100 X-linked mental retardation syndromes have been describe

63 n-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (i

64 ligence (as indicated by the large number of X-linked mental retardation syndromes).

65 clinical and molecular advances have allowed X-linked mental retardation to be more clearly delineate

66 f unknown function implicated in nonspecific X-linked mental retardation, VCX-A, can function as an i

67 the human X chromosome in 250 families with X-linked mental retardation, we identified mutations in

68 , in which patients age prematurely, and the X-linked mental retardation with alpha-thalassemia syndr

69 ted family members present with non-specific X-linked mental retardation with verbal disability (BDOA

70 bly, missense mutations in MED12 causing the X-linked mental retardation (XLMR) disorders FG syndrome

71 between skewed X-chromosome inactivation and X-linked mental retardation (XLMR) disorders, we used th

72 We show that the X-linked mental retardation (XLMR) gene SMCX (JARID1C),

73 tly, it has been shown that various forms of X-linked mental retardation (XLMR) have a strong associa

74 X-linked mental retardation (XLMR) is a complex human di

75 X-linked Mental Retardation (XLMR) occurs in 1 in 600 ma

76 (CRL4B) complexes, is frequently mutated in X-linked mental retardation (XLMR) patients.

77 been conducted on the Mennonite family with X-linked mental retardation (XLMR) reported, in 1962, by

78 We report a novel X-linked mental retardation (XLMR) syndrome, with charac

79 ons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct s

80 ons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two no

81 sorders, syndromic and nonsyndromic forms of X-linked mental retardation (XLMR), X-linked neuromuscul

82 n ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked mental retardation (XLMR).

83 CUL4B gene on Xq24 in 8 of 250 families with X-linked mental retardation (XLMR).

84 mains of iGluR3 by sequencing 400 males with X-linked mental retardation (XLMR).

85 cal disorder Rett syndrome and some cases of X-linked mental retardation (XLMR).