ライフサイエンスコーパス: ARPKD

1 ARPKD is caused by a mutation to PKHD1 and the PCK rat i

2 ARPKD is caused by mutations in a single gene PKHD1, whi

3 chanism underlying cystogenesis in ADPKD and ARPKD and provide insight into the molecular relationshi

4 overexpression in the livers of PCK rats and ARPKD or autosomal-dominant polycystic kidney disease pa

5 despite the presence of apical Na/K-ATPase, ARPKD cyst-lining cells absorb Na by a pathway that is m

6 utosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fi

7 tosomal recessive polycystic kidney disease (ARPKD) as a cystic kidney disease in which lesions are l

8 tosomal recessive polycystic kidney disease (ARPKD) gene, Pkhd1.

9 tosomal recessive polycystic kidney disease (ARPKD) gene, Tg737.

10 tosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in in

11 tosomal recessive polycystic kidney disease (ARPKD) is a rare but devastating inherited disease in hu

12 tosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease tha

13 tosomal recessive polycystic kidney disease (ARPKD) is a significant hereditary renal disease occurri

14 tosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring

15 tosomal recessive polycystic kidney disease (ARPKD) is an increased activity of the epidermal growth

16 tosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD characterized by fusi

17 tosomal recessive polycystic kidney disease (ARPKD) is an inherited cystic disorder that produces ren

18 tosomal-recessive polycystic kidney disease (ARPKD) is caused by mutation to a large gene, PKHD1, enc

19 tosomal recessive polycystic kidney disease (ARPKD) is characterized by biliary and renal lesions tha

20 tosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts

21 tosomal recessive polycystic kidney disease (ARPKD) is poorly understood, but impaired mechanosensiti

22 tosomal recessive polycystic kidney disease (ARPKD) was examined in nine ARPKD kidney specimens rangi

23 tosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (

24 tosomal-recessive polycystic kidney disease (ARPKD), decreased intracellular calcium [Ca(2+)](i) in c

25 tosomal recessive polycystic kidney disease (ARPKD), develop cholangiocyte-derived liver cysts associ

26 tosomal recessive polycystic kidney disease (ARPKD), displayed global changes in miRNA expression com

27 tosomal recessive polycystic kidney disease (ARPKD), one of the PCLDs.

28 tosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is char

29 tosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is char

30 tosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneo

31 tosomal recessive polycystic kidney disease (ARPKD).

32 tosomal recessive polycystic kidney disease (ARPKD).

33 tosomal recessive polycystic kidney disease (ARPKD).

34 tosomal recessive polycystic kidney disease (ARPKD).

35 tosomal recessive polycystic kidney disease (ARPKD).

36 tosomal recessive polycystic kidney disease (ARPKD).

37 tosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a hereditary and severe form of po

38 duct cysts in tissue sections of human fetal ARPKD nephrectomy specimens and conditionally immortaliz

39 lies: The polycystins (ADPKD); fibrocystins (ARPKD); and meckelin.

40 ke it a strong positional candidate gene for ARPKD.

41 hese mAbs recognize fibrocystin, tissue from ARPKD patients was analyzed and no fibrocystin products

42 However, ARPKD cells absorbed Na at a rate approximately 50% grea

43 istochemically by lectin binding in 11 human ARPKD specimens obtained at different fetal and postnata

44 some amplification in the kidneys from human ARPKD patients.

45 e the description of cystic lesions in human ARPKD has been largely based on postnatal specimens, PT

46 enal pathology similar to that seen in human ARPKD.

47 nal pathology similar to that found in human ARPKD.

48 c-ErbB2 staining of human ARPKD samples showed increased expression with increasin

49 It is concluded that human ARPKD, like murine ARPKD, has a transient phase of PT cy

50 of which is genetically homologous to human ARPKD, the level of PKHD1 was significantly reduced but

51 In ARPKD, the combination of mutations is critical to the p

52 Furthermore, Na absorption in ARPKD cells was partially inhibited by 100 micro M apica

53 is channel may contribute to cystogenesis in ARPKD.

54 ersely correlates with renal cystogenesis in ARPKD.

55 PC dysfunction contribute to cystogenesis in ARPKD.

56 ion and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction.

57 t with the notion that the primary defect in ARPKD resulting in cystogenesis may be linked to ciliary

58 ubular segment involved in cyst formation in ARPKD.

59 stablish DZIP1L as a second gene involved in ARPKD pathogenesis.

60 roteins involved in vectorial Na movement in ARPKD epithelium.

61 e have identified PKHD1, the gene mutated in ARPKD.

62 The nature of the germline mutations in ARPKD plays a significant role in determining clinical o

63 parallels the tissue involvement observed in ARPKD.

64 Screening PKHDL1 in ARPKD patients with no PKHD1 mutations revealed several

65 4 activity may have therapeutic potential in ARPKD.

66 ys are involved in Src-mediated signaling in ARPKD and that this occurs without reducing elevated cAM

67 f the EGFR may potentially be therapeutic in ARPKD.

68 et little is known about solute transport in ARPKD.

69 ear mutations, making it unlikely that it is ARPKD-associated.

70 The predicted full-length ARPKD protein, fibrocystin, is membrane bound with 4074

71 The major ARPKD-related renal and biliary phenotypes are modulated

72 mal development but is upregulated in murine ARPKD.

73 t is concluded that human ARPKD, like murine ARPKD, has a transient phase of PT cyst formation during

74 c feature of fetal human, as well as murine, ARPKD.

75 kidney disease (ARPKD) was examined in nine ARPKD kidney specimens ranging from gestational age 17 w

76 Northern blot analyses of ARPKD whole kidney and Western immunoblot of ARPKD cells

77 in vitro may explain the characteristics of ARPKD phenotypes in vivo.

78 are involved in the hepatic cystogenesis of ARPKD.

79 1), are responsible for all typical forms of ARPKD.

80 ARPKD whole kidney and Western immunoblot of ARPKD cells showed approximately twofold greater express

81 antly attenuated the renal manifestations of ARPKD in a time-dependent manner.

82 c complementation of the BPK murine model of ARPKD with the CFTR knockout mouse.

83 e model and the orthologous PCK rat model of ARPKD, greater Src activity was found to correlate with

84 hology in the BALB/c-cpk/cpk murine model of ARPKD.

85 osine kinase activity into a murine model of ARPKD.

86 fibrosis as well as in the PKC rat model of ARPKD.

87 nondilated split-open CDs in a rat model of ARPKD.

88 stubular fluid secretion in animal models of ARPKD compared with ADPKD.

89 Murine models of ARPKD consistently demonstrate an early phase of proxima

90 (22)Na transport performed on monolayers of ARPKD and age-matched collecting tubule (HFCT) cells gro

91 Treatment of ADPKD cells or ARPKD cells with either Bay K8644, a Ca2+ channel activa

92 osomal-dominant polycystic kidney disease or ARPKD.

93 wo childhood forms, autosomal recessive PKD (ARPKD) and nephronophthisis (NPH), are characterized by

94 In autosomal recessive PKD (ARPKD), liver lesions are the major cause of morbidity a

95 y disease (PKD) and autosomal recessive PKD (ARPKD), the precise functions of their cystoprotein prod

96 ly similar to human autosomal recessive PKD (ARPKD), whereas genetic background modulates the penetra

97 ely resembles human autosomal recessive PKD (ARPKD), with the exception that B6-cpk/cpk homozygotes d

98 ductin (FPC), cause autosomal recessive PKD (ARPKD).

99 e mainly infantile, autosomal recessive PKD (ARPKD); and the lethal, syndromic, Meckel syndrome that

100 oduct of PKHD1, the autosomal-recessive PKD [ARPKD] gene) in cholangiocyte cilia; (2) biliary cyst fo

101 CK rats (a model of autosomal recessive PKD [ARPKD]), healthy human beings, and patients with autosom

102 c disease genes, HNF1beta (MODY5) and PKHD1 (ARPKD).

103 om autosomal dominant (ADPKD) and recessive (ARPKD) PKD kidneys were used to determine whether contro

104 Autosomal dominant (ADPKD) and recessive (ARPKD) polycystic kidney disease are characterized by th

105 al dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are caused by mutations

106 al dominant (ADPKD) and autosomal recessive (ARPKD)--are highly variable in penetrance.

107 nowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establis

108 The ARPKD gene, PKHD1, is large (approximately 470 kb; 67 ex

109 s relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified.

110 normal and polycystic kidney (PCK) rats, the ARPKD model of autosomal recessive polycystic kidney dis

111 produce kidney cysts by down-regulating the ARPKD gene, Pkhd1.

112 The function of this ARPKD gene may be evolutionarily conserved: mutations re

113 ines from fibroblasts of three ADPKD and two ARPKD patients.

114 and hepatic portal fibrosis associated with ARPKD have not been well studied even though such lesion

115 Patients with ARPKD and congenital hepatic fibrosis were evaluated at

116 Seventy percent of patients with ARPKD have biliary abnormalities.

117 congenital hepatic fibrosis in patients with ARPKD, confirmed by detection of mutations in PKHD1.

118 similar to that seen in human patients with ARPKD.

119 interacting protein 1-like, in patients with ARPKD.

120 onset but is underdiagnosed in patients with ARPKD.

121 e human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8