ライフサイエンスコーパス: CAKUT

1 CAKUT are problems that often require surgical intervent

2 CAKUT causes approximately 40% of ESRD that manifests wi

3 rozygous for a null allele of Nrip1 showed a CAKUT-spectrum phenotype.

4 que systems and in diseases such as HSCR and CAKUT.

5 hat a significant association exists between CAKUT and a nucleotide transition within the lariat bran

6 cate that dominant NRIP1 mutations can cause CAKUT by interference with retinoic acid transcriptional

7 fication of single-gene mutations that cause CAKUT permits the first insights into related disease me

8 mately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients.

9 Abrogating signaling via Y1015 causes CAKUT that are markedly different than renal agenesis in

10 nd new insights into the molecular basis for CAKUT.

11 confirm ESRRG as a strong candidate gene for CAKUT.

12 rmone receptor ESRRG as a candidate gene for CAKUT.

13 athways that were identified as relevant for CAKUT in mice and humans.

14 ominant-negative TBX18 mutations cause human CAKUT by interference with TBX18 transcriptional repress

15 n overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pat

16 ures of mouse CAKUT impressively mimic human CAKUT.

17 ell development in the pathogenesis of human CAKUT.

18 Although reduction in GDNF dosage improved CAKUT it did not affect delayed mesenchyme regression.

19 , applying WES to the diagnostic approach in CAKUT provides opportunities for an accurate and early e

20 nes, including genes known to be involved in CAKUT and candidate genes, in a cohort of 204 unrelated

21 variants recently reported as pathogenic in CAKUT did not indicate causality.

22 variants recently reported as pathogenic in CAKUT.

23 al bud and metanephric blastema resulting in CAKUT.

24 cause multiorgan syndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal dise

25 aser/MOTA/BNAR spectrum genes cause isolated CAKUT, whereas truncating mutations are found in the mul

26 ribed as causing autosomal dominant isolated CAKUT in humans.

27 es represent the molecular cause of isolated CAKUT in 2.5% of the 590 affected families in this study

28 However, >90% of cases of isolated CAKUT still remain without a molecular diagnosis.

29 We show that isolated CAKUT may be caused partially by mutations in recessive

30 idate genes in 574 individuals with isolated CAKUT from 590 families.

31 may also be mutated in humans with isolated CAKUT.

32 pathogenic mutations and deletions in known CAKUT genes.

33 However, hundreds of different monogenic CAKUT genes probably exist.

34 s suggest that PBX1 is involved in monogenic CAKUT in humans and call into question the role of some

35 Various features of mouse CAKUT impressively mimic human CAKUT.

36 The discovery of novel CAKUT-causing genes remains challenging because of this

37 rank among the most common abnormalities of CAKUT, but the molecular basis for this defect is poorly

38 Monogenic causes of CAKUT in humans and mice have been identified.

39 Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiat

40 and offers new insights into the etiology of CAKUT and possible involvement of Wnt5a/Ror2 mutations.

41 a kindred with an autosomal-dominant form of CAKUT with predominant ureteropelvic junction obstructio

42 a kindred with an autosomal dominant form of CAKUT.

43 Apart from isolated forms of CAKUT, more than 500 syndromes have been described that

44 and/or epigenetics in the pathophysiology of CAKUT.

45 diseases that may manifest as phenocopies of CAKUT.

46 wever, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be

47 The spectrum of CAKUT included high-grade VUR (n = 2), renal dysplasia (

48 in recessive mouse models with the specific CAKUT phenotype of unilateral renal agenesis may also be

49 uced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes.

50 at may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manifest as phen

51 Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations

52 l anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ES

53 l anomalies of the kidney and urinary tract (CAKUT) affect about 1 in 500 births and are a major caus

54 l anomalies of the kidney and urinary tract (CAKUT) are among the most frequent organ malformations.

55 lies of kidneys and the lower urinary tract (CAKUT) are poorly understood.

56 anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuri

57 anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disea

58 l anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first thr

59 anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformat

60 omalies of the kidney and the urinary tract (CAKUT) in human newborns.

61 l anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR).

62 l anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, repres

63 nital anomalies of kidneys or urinary tract (CAKUT) syndrome, produced only minor abnormalities in th

64 l anomalies of the kidney and urinary tract (CAKUT), including hypo/dysplastic kidneys, hydroureter,

65 nital anomalies of kidney and urinary tract (CAKUT), including vesico-ureteric reflux (VUR), are majo

66 nital anomalies of kidneys or urinary tract (CAKUT).

67 l anomalies of the kidney and urinary tract (CAKUT).

68 ence for a locus on 13q33q34 associated with CAKUT.

69 some 13q was performed in four children with CAKUT using 31 microsatellite markers on peripheral bloo

70 A screen of additional families with CAKUT identified three families harboring two heterozygo

71 quencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous families.

72 g broad range phenotypes in individuals with CAKUT.

73 However, for most patients with CAKUT, the causative mutation remains unknown.

74 , in a cohort of 204 unrelated patients with CAKUT; 45% of the patients were severe fetal cases.

75 llular missense variants that segregate with CAKUT and VUR in two unrelated families.