ライフサイエンスコーパス: Meckel

1 Meckel diverticula occur so infrequently that most artic

2 Meckel syndrome (MKS) is a lethal disorder associated wi

3 Meckel syndrome (MKS) is a lethal disorder characterized

4 Meckel syndrome (MKS) is a rare autosomal recessive dise

5 Meckel syndrome (MKS) is an embryonic lethal, autosomal

6 Meckel-Gruber syndrome (MKS) is a genetically heterogene

7 Meckel-Gruber syndrome (MKS) is an autosomal recessive l

8 Meckel-Gruber syndrome (MKS) is an embryonic lethal cili

9 Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), a

10 Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), a

11 Meckel-Gruber syndrome is a severe autosomal, recessivel

12 Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a s

13 onstrate that IFT particle components, and a Meckel-Gruber syndrome 1 (MKS1)-related, B9 domain prote

14 re reviewed of 1476 patients found to have a Meckel diverticulum during surgery from 1950 to 2002.

15 When a Meckel's diverticulum is suspected, we suggest SPECT be

16 pport nor reject the recommendation that all Meckel diverticula found incidentally should be removed,

17 um (12%), stomach (4%), duodenum (1.3%), and Meckel's diverticulum (1.3%).

18 mutations in human Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other

19 y to evaluate gastrointestinal bleeding, and Meckel diverticulum imaging.

20 ted compromised in vitro chondrogenesis, and Meckel's cartilage was underdeveloped in vivo.

21 kidney disease and retinal degeneration, and Meckel-Gruber syndrome (MKS), a gestational lethal condi

22 rested as a single, bud-stage tooth germ and Meckel's cartilage was absent.

23 GRIP1L, a gene mutated in Joubert (JBTS) and Meckel (MKS) syndromes, two severe forms of ciliopathy,

24 Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ci

25 CEP290/NPHP6 is associated with Joubert and Meckel syndromes, whereas hypomorphic mutations result i

26 Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies chara

27 as growth in the brain, limb buds, nose and Meckel's cartilage, remodeling of the intestine, and dea

28 Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of which have pronounced neu

29 nts affected by severe ciliopathies, such as Meckel syndrome, present several ocular surface disease

30 sformation of first arch cartilages, such as Meckel's and the quadrate, into second arch elements, su

31 in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS)

32 hibit phenotypes reminiscent of Bardet-Biedl/Meckel-Gruber ciliopathy syndromes, including cardiac ou

33 Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized

34 a locus previously linked to the ciliopathy Meckel-Gruber syndrome.

35 to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defin

36 mesoderm (tongue) and cranial neural crest (Meckel's cartilage).

37 During craniofacial development, Meckel's cartilage and the mandible bone derive from the

38 the maxillae into mandibles with duplicated Meckel's cartilage, which resulted in an absence of the

39 gy and ciliary function in a mouse model for Meckel Syndrome Type 3 (MKS3) throughout the course of p

40 s that promote chondrocyte proliferation for Meckel's cartilage growth are poorly defined.

41 Mayo Clinic experience with patients who had Meckel diverticulum, we sought to determine which divert

42 ve mesodermal interactions could explain how Meckel's diverticula express diverse non-intestinal, end

43 peptides partially rescued abnormalities in Meckel's cartilage.

44 ecreased differentiation of chondroblasts in Meckel's cartilage.

45 ntum, periodontal ligaments, chondrocytes in Meckel's cartilage, mandible, the articulating disc of t

46 TGF rescues the cell proliferation defect in Meckel's cartilage of Tgfbr2(fl/fl);Wnt1-Cre mutants, de

47 g protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is ass

48 ansmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive cil

49 odule of transition zone proteins mutated in Meckel-Gruber syndrome (MKS), including Cep290, Mks1, B9

50 cifically required for cell proliferation in Meckel's cartilage and the mandibular anlagen and for th

51 ns in centrosome-cilia gene CC2D2A result in Meckel and Joubert syndromes.

52 taken, we recommend removing all incidental Meckel diverticula that have any of the 4 features most

53 Surgical management of incidental Meckel's diverticulum(MD) is a highly debated controvers

54 cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken sy

55 ially nephronophthisis) syndromes, including Meckel/Joubert-like and oral-facial-digital syndrome, ca

56 Inverted Meckel diverticulum occurs more commonly than previously

57 onophthisis (NPHP), Joubert syndrome (JBTS), Meckel-Gruber syndrome (MKS), and Bardet-Biedl syndrome

58 n syndrome, Joubert syndrome, and the lethal Meckel-Gruber syndrome.

59 syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Joubert syndrome (JBTS), a

60 ression in the epithelium and bifurcation of Meckel's cartilage.

61 Among 84 cases of Meckel diverticulum, 18 (21%) were found at surgery to b

62 Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary a

63 signaling is required for the elongation of Meckel's cartilage and FGFR2 and FGFR3 have roles during

64 that appear to represent murine examples of Meckel's Diverticulum, a congenital abnormality in human

65 , palatal clefting results from a failure of Meckel's cartilage to extend the mandible and thereby al

66 2a(-/-) mouse that recapitulates features of Meckel syndrome including embryonic lethality and multio

67 Jaw morphogenesis depends on the growth of Meckel's cartilage during embryogenesis.

68 abnormalities including the complete loss of Meckel's cartilage, the ceratohyal, and all of the cerat

69 at HH26 did not affect the morphogenesis of Meckel's cartilage but resulted in truncations of the ma

70 In addition, morphogenesis of Meckel's cartilage was deficient in cultured mandibular

71 ants phenocopied the defective morphology of Meckel's cartilage seen in Egfr-/- explants.

72 rostral cartilage evolved by partitioning of Meckel's cartilage with a new paired joint.

73 e strongly expressed in the perichondrium of Meckel's cartilage and mesenchymal areas of embryonic da

74 e joint-associated retroarticular process of Meckel's cartilage, and the retroarticular bone.

75 elements surrounding the rostral process of Meckel's cartilage.

76 lies in proximity to the critical regions of Meckel-Gruber syndrome 2 (MKS2) and Joubert syndrome 2 (

77 Development of the anterior segment of Meckel's cartilage was also inhibited and proteoglycan c

78 er-dental mesenchyme and distal symphysis of Meckel's cartilage became hypoplastic, resulting in the

79 re connected to the mandible via an ossified Meckel's cartilage.

80 t has molariform tooth replacement, ossified Meckel's cartilage of the middle ear, and specialized xe

81 dentary bone but still connect the ossified Meckel's cartilage (OMC); we hypothesize that the OMC se

82 between the palatoquadrate and proximal part Meckel's cartilage (articular) has recently been shown t

83 uals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its d

84 sihyobranchial, palatoquadrate, and possibly Meckel's cartilages.

85 dent mouse models that blood vessels promote Meckel's cartilage extension.

86 ing from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occi

87 In rod-shaped cartilage structures (Meckel, ribs and skeletal elements in developing limbs),

88 Among patients with a symptomatic Meckel diverticulum, the male-female ratio was approxima

89 es most commonly associated with symptomatic Meckel diverticula were patient age younger than 50 year

90 ic features were associated with symptomatic Meckel diverticulum.

91 es most commonly associated with symptomatic Meckel diverticulum.

92 connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting

93 llar abnormalities such as Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Orofa

94 sive PKD (ARPKD); and the lethal, syndromic, Meckel syndrome that also includes central nervous syste

95 The Meckel syndrome (MKS) complex functions at the transitio

96 ent of craniofacial structures including the Meckel's cartilage and the mandible.

97 Among the 1476 patients, 16% of the Meckel diverticula were symptomatic.

98 nterestingly, one of them is a member of the Meckel-Gruber syndrome factors, associated with human ci

99 x (BBSome) is more distal in the TZ than the Meckel syndrome (MKS) complex.

100 of this locus has been previously linked to Meckel syndrome; the phenotype includes postaxial polyda

101 from the nerve root exit zone in the pons to Meckel's cave.

102 hypoplastic mandibular process and truncated Meckel's cartilage.

103 ith other anomalies, such as patent urachus, Meckel's diverticulum, mesenteric cyst, and accessory pa

104 multiple ciliopathy proteins associated with Meckel and Joubert syndromes, including Mks1, Tmem216, T

105 CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS).