(Q34077532)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22095942%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22095942%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1

1 reference

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16 January 2020

Vincent Morinière

2

1 reference

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16 January 2020

Christelle Arrondel

4

1 reference

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16 January 2020

Katherine L Lachlan

22

1 reference

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16 January 2020

Dominique Bonneau

43

1 reference

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16 January 2020

Corinne Antignac

54

1 reference

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16 January 2020

Marie-Claire Gubler

55

1 reference

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16 January 2020

33

Helen Firth

1 reference

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16 January 2020

Silvia Majore

42

1 reference

ORCID Public Data File 2021

Ralph J DeBerardinis

51

object named as

Ralph DeBerardinis

1 reference

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16 January 2020

28

Anne Lise Delezoide

1 reference

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16 January 2020

24

François Cartault

1 reference

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16 January 2020

27

Clarisse Baumann

1 reference

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16 January 2020

author name string

Audrey Pawtowski

3

1 reference

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16 January 2020

Satu-Leena Sallinen

5

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16 January 2020

Carola Saloranta

6

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16 January 2020

Carol Clericuzio

7

1 reference

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16 January 2020

Géraldine Viot

8

1 reference

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16 January 2020

Julia Tantau

9

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16 January 2020

Sophie Blesson

10

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16 January 2020

Sylvie Cloarec

11

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16 January 2020

Marie Christine Machet

12

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16 January 2020

David Chitayat

13

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16 January 2020

Christelle Thauvin

14

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16 January 2020

Nicole Laurent

15

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16 January 2020

Julian R Sampson

16

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16 January 2020

Jonathan A Bernstein

17

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16 January 2020

Alix Clemenson

18

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16 January 2020

Fabienne Prieur

19

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16 January 2020

Laurent Daniel

20

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16 January 2020

Annie Levy-Mozziconacci

21

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16 January 2020

Jean Luc Alessandri

23

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16 January 2020

Jean Pierre Rivière

25

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16 January 2020

Nicole Picard

26

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16 January 2020

Maria Belar Ortega

29

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16 January 2020

Nicolas Chassaing

30

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16 January 2020

Philippe Labrune

31

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16 January 2020

Sui Yu

32

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16 January 2020

Diana Wellesley

34

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16 January 2020

Martin Bitzan

35

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16 January 2020

Ahmed Alfares

36

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16 January 2020

Nancy Braverman

37

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16 January 2020

Lotte Krogh

38

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16 January 2020

John Tolmie

39

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16 January 2020

Harald Gaspar

40

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16 January 2020

Bérénice Doray

41

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16 January 2020

Stéphane Triau

44

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16 January 2020

Chantal Loirat

45

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16 January 2020

Albert David

46

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16 January 2020

Deborah Bartholdi

47

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16 January 2020

Amir Peleg

48

1 reference

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16 January 2020

Damien Brackman

49

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16 January 2020

Rosario Stone

50

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16 January 2020

Annie Michaud

53

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16 January 2020

Pierre Corvol

52

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16 January 2020

publication date

22 December 2011

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16 January 2020

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16 January 2020

volume

33

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16 January 2020

issue

2

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16 January 2020

page(s)

316-326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22095942%20AND%20SRC:MED&resulttype=core&format=json

Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review

16 January 2020

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1 reference

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Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease

21 January 2018

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ACE inhibitor fetopathy and hypocalvaria: The kidney-skull connection

21 January 2018

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A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

21 January 2018

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CAN WE LIVE WITHOUT A FUNCTIONAL RENIN-ANGIOTENSIN SYSTEM?

21 January 2018

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Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain

21 January 2018

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The critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in mice

21 January 2018

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Structure of human angiotensinogen gene

21 January 2018

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Developmental aspects of the renal responses to hemorrhage during converting-enzyme inhibition in fetal lambs

21 January 2018

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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

21 January 2018

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Renin-angiotensin system in kidney development: renal tubular dysgenesis

21 January 2018

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The genomic organization of human angiotensin II type 1 receptor

21 January 2018

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Aberrant renal vascular morphology and renin expression in mutant mice lacking angiotensin-converting enzyme

21 January 2018

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Cloning and sequence analysis of cDNA for human renin precursor

21 January 2018

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Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review

21 January 2018

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Genetic control of blood pressure and the angiotensinogen locus

21 January 2018

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Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors

21 January 2018

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Single amino acid repeats in signal peptides

21 January 2018

1 reference

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Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system

21 January 2018

1 reference

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Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease

21 January 2018

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A further family with congenital renal proximal tubular dysgenesis

21 January 2018

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Twin-to-twin transfusion syndrome. Role of the fetal renin-angiotensin system

21 January 2018

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Fetal toxic effects and angiotensin-II-receptor antagonists

21 January 2018

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Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review

21 January 2018

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Cathepsin B is not the processing enzyme for mouse prorenin

21 January 2018

1 reference

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Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

21 January 2018

1 reference

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Renal tubular dysgenesis with microcephaly

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21661

Molecular analysis of the structure and function of the angiotensin II type 1 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

Structure of the human renin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

Angiotensin induces the urinary peristaltic machinery during the perinatal period

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

Creation and characterization of a renin knockout rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

Gene targeting in mice reveals a requirement for angiotensin in the development and maintenance of kidney morphology and growth factor regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

Reduced growth, abnormal kidney structure, and type 2 (AT2) angiotensin receptor-mediated blood pressure regulation in mice lacking both AT1A and AT1B receptors for angiotensin II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type

21 January 2018

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Losartan and fetal toxic effects

21 January 2018

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Inherited renal tubular dysgenesis may not be universally fatal

21 January 2018

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Structure of recombinant human renin, a target for cardiovascular-active drugs, at 2.5 A resolution

21 January 2018

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Ren1c homozygous null mice are hypotensive and polyuric, but heterozygotes are indistinguishable from wild-type

21 January 2018

1 reference

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Murine double nullizygotes of the angiotensin type 1A and 1B receptor genes duplicate severe abnormal phenotypes of angiotensinogen nullizygotes

21 January 2018

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The angiotensin-converting enzyme gene family: genomics and pharmacology

21 January 2018

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A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations.

21 January 2018

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A further case of renal tubular dysgenesis surviving the neonatal period.

21 January 2018

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Renin-dependent cardiovascular functions and renin-independent blood-brain barrier functions revealed by renin-deficient mice

21 January 2018

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Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

21 January 2018

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Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

21 January 2018

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Angiotensinogen cleavage by renin: importance of a structurally constrained N-terminus

21 January 2018

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Possible new autosomal recessive syndrome with unusual renal histopathological changes

21 January 2018

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7 January 2021

Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules

1 reference

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7 January 2021

Dysgénésie tubulaire proximale et mutation du gène de la rénine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Renal tubular dysgenesis in twins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Dysgénésie tubulaire rénale autosomique récessive: étude morphologique et génétique de 2 nouveaux cas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

The renin-angiotensin system in mother and foetus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Renal tubular dysgenesis and multiple intestinal perforation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Renal tubular dysgenesis: a description of early renal maldevelopment in siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Ontogenesis of angiotensin-I converting enzyme in human Kidney

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Plasma renin activity in sheep pregnancy after fetal or maternal nephrectomy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Angiotensinogen gene null-mutant mice lack homeostatic regulation of glomerular filtration and tubular reabsorption

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

The ontogeny of the renin-angiotensin system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Isolated congenital renal tubular immaturity in siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Renal tubular dysgenesis: delayed onset of oligohydramnios

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Fetal plasma renin and renin substrate in mid-trimester pregnancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Congenital hypernephronic nephromegaly with tubular dysgenesis: a distinctive inherited renal anomaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21661

7 January 2021

Identifiers

DOI

10.1002/HUMU.21661

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22095942%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference