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  1. Article: Nephronophthisis.

    Srivastava, Shalabh / Sayer, John A

    Journal of pediatric genetics

    2016  Volume 3, Issue 2, Page(s) 103–114

    Abstract: Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads ...

    Abstract Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy. Modern molecular genetics now allows a diagnosis to be made in a significant proportion of cases. Mutations in NPHP1 account for 20% of cases, but the disease is genetically heterogeneous with at least 20 different genes associated with NPHP. Recent developments in the fields of genetics and proteomics have led to increased understanding of the underlying pathogenetic defects. Almost all NPHP genes encode proteins, which localize to the primary cilia, basal body and centrosome. NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration, cerebellar ataxia, liver fibrosis and situs inversus. In this review, we discuss the historical descriptions of NPHP in the context of more recent developments in our understanding of this disease.
    Language English
    Publishing date 2016-08-22
    Publishing country Germany
    Document type Journal Article
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.3233/PGE-14086
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  2. Article: Nephronophthisis

    Srivastava, Shalabh / Sayer, John A.

    Journal of Pediatric Genetics

    2014  Volume 03, Issue 02, Page(s) 103–114

    Abstract: Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads ...

    Abstract Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy. Modern molecular genetics now allows a diagnosis to be made in a significant proportion of cases. Mutations in NPHP1 account for 20% of cases, but the disease is genetically heterogeneous with at least 20 different genes associated with NPHP. Recent developments in the fields of genetics and proteomics have led to increased understanding of the underlying pathogenetic defects. Almost all NPHP genes encode proteins, which localize to the primary cilia, basal body and centrosome. NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration, cerebellar ataxia, liver fibrosis and situs inversus. In this review, we discuss the historical descriptions of NPHP in the context of more recent developments in our understanding of this disease.
    Keywords Nephronophthisis ; ciliopathy ; cystic kidney disease ; end-stage renal disease
    Language English
    Publishing date 2014-06-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.3233/PGE-14086
    Database Thieme publisher's database

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  3. Article ; Online: Nephronophthisis.

    Wolf, Matthias T F / Hildebrandt, Friedhelm

    Pediatric nephrology (Berlin, Germany)

    2010  Volume 26, Issue 2, Page(s) 181–194

    Abstract: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent ... identified, our knowledge of nephronophthisis is changing, thereby improving our understanding ...

    Abstract Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L). As an increasing number of these genes are identified, our knowledge of nephronophthisis is changing, thereby improving our understanding of the pathomechanisms in NPHP. Recent publications have described ciliary expression of nephrocystins together with other cystoproteins, such as polycystins 1 and 2 and fibrocystin. These findings have shifted our focus to a pathomechanism involving defects in ciliary function (ciliopathy) and planar cell polarity (PCP). In addition, discoveries of new nephrocystin genes have shown that the disease spectrum of NPHP is much broader than previously anticipated. Different forms of mutations within the same NPHP gene can cause different disease severity. In this review, we highlight the different hypotheses on the pathomechanisms for NPHP and underline the clinical variability of this disease. The clinical spectrum has become even more complex with the possibility of oligogenicity in NPHP.
    MeSH term(s) Child ; Cilia/pathology ; Cilia/physiology ; Genes, Recessive ; Humans ; Kidney Diseases, Cystic/congenital ; Kidney Diseases, Cystic/etiology ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/pathology ; Kidney Diseases, Cystic/physiopathology ; Mutation ; Phenotype
    Language English
    Publishing date 2010-07-22
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-010-1585-z
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    Zs.A 2196: Show issues Location:
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  4. Article ; Online: Nephronophthisis.

    Simms, Roslyn J / Eley, Lorraine / Sayer, John A

    European journal of human genetics : EJHG

    2008  Volume 17, Issue 4, Page(s) 406–416

    Abstract: Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic ...

    Abstract Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome. Recent molecular genetic advances have allowed identification of several genes underlying NPHP. Most of these genes express their protein products, named nephrocystins, in primary cilial/basal body structures. Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes. This shared localization suggests that common pathogenic mechanisms within the kidney underlie this disease. Functional studies implicate nephrocystins in planar cell polarity pathways, which may be crucial for renal development and maintenance of tubular architecture.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Cytoskeletal Proteins ; Humans ; Kidney Failure, Chronic/diagnosis ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/metabolism ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Models, Genetic ; Mutation ; Nephritis, Interstitial/diagnosis ; Nephritis, Interstitial/genetics ; Nephritis, Interstitial/metabolism
    Chemical Substances Adaptor Proteins, Signal Transducing ; Cytoskeletal Proteins ; Membrane Proteins ; NPHP1 protein, human
    Language English
    Publishing date 2008-12-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2008.238
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  5. Article ; Online: Nephronophthisis.

    Salomon, Rémi / Saunier, Sophie / Niaudet, Patrick

    Pediatric nephrology (Berlin, Germany)

    2008  Volume 24, Issue 12, Page(s) 2333–2344

    Abstract: Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic ...

    Abstract Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Løken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.
    MeSH term(s) Child ; Cilia/pathology ; Genes, Recessive ; Humans ; Kidney Failure, Chronic/genetics ; Nephritis, Interstitial/genetics ; Polycystic Kidney Diseases/genetics ; Retinitis Pigmentosa/genetics
    Language English
    Publishing date 2008-07-08
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-008-0840-z
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  6. Book ; Thesis: The role of nephronophthisis-associated genes in the development of the zebrafish cloaca

    Zaiser, Friedemann Freyr

    2023  

    Institution Albert-Ludwigs-Universität Freiburg
    Author's details vorgelegt 2022 von Friedemann Freyr Zaiser
    Keywords Nierenentzündung ; Genmutation ; Zebrabärbling
    Subject Gen ; Nephritis ; Brachydanio rerio ; Danio rerio ; Zebrafisch ; Zebrabarbe
    Subject code 610 ; 570
    Language English
    Size VIII, 107 Seiten, Illustrationen, Diagramme
    Publishing place Freiburg im Breisgau
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Albert-Ludwigs-Universität Freiburg im Breisgau, 2023
    HBZ-ID HT030616283
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2023 E 1474 order for loan Magazin

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  7. Article ; Online: Nephronophthisis

    Roslyn J. Simms / Ann Marie Hynes / Lorraine Eley / John A. Sayer

    International Journal of Nephrology, Vol

    A Genetically Diverse Ciliopathy

    2011  Volume 2011

    Keywords Diseases of the genitourinary system. Urology ; RC870-923 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Urology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Publishing date 2011-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article: Nephronophthisis.

    Saunier, Sophie / Salomon, Rémi / Antignac, Corinne

    Current opinion in genetics & development

    2005  Volume 15, Issue 3, Page(s) 324–331

    Abstract: ... of nephronophthisis, and it is now evident that the disease is characterized by both clinical and ...

    Abstract There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene defects. These genes encode proteins that localize in different cell compartments - in particular, to the primary apical cilia - as is the case for virtually all gene products involved in cystic kidney diseases. Two animal models with mutations in the mouse orthologs of the genes involved in the adolescent and infantile forms also exist. These models have been of considerable help in deciphering disease pathogenesis.
    MeSH term(s) Animals ; Humans ; Kidney Diseases/genetics ; Kidney Diseases/metabolism ; Kidney Diseases/pathology ; Mutation/genetics ; Syndrome
    Language English
    Publishing date 2005-06
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2005.04.012
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  9. Article: Nephronophthisis.

    Lirenman, D S

    Comprehensive therapy

    1981  Volume 7, Issue 3, Page(s) 62–66

    MeSH term(s) Adult ; Child ; Diagnosis, Differential ; Humans ; Kidney Diseases ; Kidney Diseases, Cystic/diagnosis ; Kidney Diseases, Cystic/etiology ; Kidney Diseases, Cystic/genetics ; Kidney Medulla ; Terminology as Topic
    Language English
    Publishing date 1981-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 752013-x
    ISSN 1559-1190 ; 0098-8243
    ISSN (online) 1559-1190
    ISSN 0098-8243
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  10. Article: Nephronophthisis.

    Steele, B T / Lirenman, D S / Beattie, C W

    The American journal of medicine

    1980  Volume 68, Issue 4, Page(s) 531–538

    Abstract: Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9 ... for nephronophthisis have appeared, with medullary cystic disease being the most common. Our experience suggests ... that nephronophthisis is a common cause of chronic renal failure and has commonly associated nonrenal abnormalities. ...

    Abstract Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands. Seven patients had an associated and characteristic retinal degeneration from infancy. Associated neurologic problems, including mental retardation, seizures and cerebellar ataxis, were also seen in some patients. Previously described skeletal abnormalities and hepatic fibrosis were not seen in any of our patients. All presented at an advanced stage of chronic renal failure, usually associated with a history of polydipsia and polyuria from infancy. Renal cysts were noted in only one of the nine patients in whom tissue was obtained by needle biopsy. In seven patients in whom tissue was available at nephrectomy or autopsy, cysts were noted in six although only in two were they localized to the medulla. Eighteen patients have undergone dialysis, and 12 patients have received a renal transplant with no evidence of recurrence of the original disease. Sixteen patients are still alive. Many synonyms for nephronophthisis have appeared, with medullary cystic disease being the most common. Our experience suggests that nephronophthisis is a common cause of chronic renal failure and has commonly associated nonrenal abnormalities.
    MeSH term(s) Adolescent ; Adult ; Anemia/genetics ; Child ; Child, Preschool ; Female ; Genes, Recessive ; Humans ; Intellectual Disability/genetics ; Kidney Diseases/genetics ; Kidney Diseases, Cystic/genetics ; Male ; Pedigree ; Retinal Degeneration/genetics ; Seizures/genetics ; Syndrome ; Terminology as Topic ; Uremia/genetics
    Language English
    Publishing date 1980-04
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80015-6
    ISSN 1555-7162 ; 1873-2178 ; 0002-9343 ; 1548-2766
    ISSN (online) 1555-7162 ; 1873-2178
    ISSN 0002-9343 ; 1548-2766
    DOI 10.1016/0002-9343(80)90299-5
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