(Q79105221)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

review article

1 reference

title

Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1

Koichi Nakanishi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14521546

16 March 2024

author name string

Norishige Yoshikawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14521546

16 March 2024

publication date

1 October 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

19 December 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1442-200X.2003.01779.x

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1442-200X.2003.01779.x

16 March 2024

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

16 March 2024

published in

Pediatrics International

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

610-616

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

Antenatal diagnosis and management of urinary abnormalities

19 December 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.

16 March 2024

2

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

A molecular and genetic view of human renal and urinary tract malformations.

16 March 2024

3

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

16 March 2024

4

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

16 March 2024

5

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

16 March 2024

7

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Angiotensin type 2 receptor is important in the normal development of the ureter

16 March 2024

8

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

16 March 2024

9

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Genomic structure of the human PAX2 gene

16 March 2024

10

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease

16 March 2024

11

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Mapping of Pax-2 transcription activation domains

16 March 2024

12

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Mutation of PAX2 in two siblings with renal-coloboma syndrome

16 March 2024

14

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

16 March 2024

15

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

16 March 2024

18

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

16 March 2024

19

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

16 March 2024

20

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

16 March 2024

21

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

16 March 2024

22

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

16 March 2024

23

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

16 March 2024

24

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

16 March 2024

25

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Unilateral renal aplasia in X-linked Kallmann's syndrome

16 March 2024

26

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Familial Kallmann syndrome with unilateral renal aplasia

16 March 2024

27

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Renal abnormalities in patients with Kallmann syndrome

16 March 2024

28

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development.

16 March 2024

29

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1

16 March 2024

31

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes

16 March 2024

32

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

16 March 2024

33

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs

16 March 2024

34

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Association of preauricular sinuses and renal anomalies

16 March 2024

35

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

16 March 2024

36

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

16 March 2024

37

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

16 March 2024

38

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

16 March 2024

39

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Genetic heterogeneity associated with branchio-oto-renal syndrome

16 March 2024

40

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications

16 March 2024

41

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

16 March 2024

42

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

The renin angiotensin system and kidney development

16 March 2024

43

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Role of the angiotensin receptor in the development of the mammalian kidney and urinary tract

16 March 2024

44

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Role of angiotensin in the congenital anomalies of the kidney and urinary tract in the mouse and the human

16 March 2024

45

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Developmental expression of renal angiotensin II receptor genes in the mouse.

16 March 2024

47

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Tissue-specific expression of type 1 angiotensin II receptor subtypes. An in situ hybridization study

16 March 2024

48

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor

16 March 2024

49

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Neonatal hydronephrosis in the era of sonography

16 March 2024

50

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Pelvic hydronephrosis in children: a review of 219 personal cases

16 March 2024

51

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Reflux nephropathy secondary to intrauterine vesicoureteric reflux

16 March 2024

52

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

The impact of fetal screening on indications for cystourethrography in infants

16 March 2024

53

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Behavioural and cardiovascular effects of disrupting the angiotensin II type-2 receptor in mice

16 March 2024

55

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Angiotensin II, type 2 receptor in the development of vesico-ureteric reflux

16 March 2024

56

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

No evidence for AT2R gene derangement in human urinary tract anomalies.

16 March 2024

57

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro

16 March 2024

58

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1

16 March 2024

59

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development

16 March 2024

60

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity

16 March 2024

61

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

16 March 2024

62

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

16 March 2024

63

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

16 March 2024

64

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

Recent insights into kidney diseases associated with glomerular cysts.

16 March 2024

66

1 reference

https://api.crossref.org/works/10.1046/J.1442-200X.2003.01779.X

16 March 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14521546%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference