Výsledky vyhledávání - "collagen type 4"

Akademický článek

COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review

Autor: Iliana Bersani, Sara Ronci, Immacolata Savarese, Fiammetta Piersigilli, Alessia Micalizzi, Chiara Maddaloni, Andrea Dotta, Annabella Braguglia, Daniela Longo, Francesca Campi

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

Intracranial hemorrhage may represent a complication of the perinatal period that affects neonatal morbidity and mortality. Very poor data exist about a possible association between mutations of the type IV collagen a1 chain (COL4A1) gene and the dev

Externí odkaz: https://doaj.org/article/45b86343cd2f4de2b89aba89b8741601

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Akademický článek

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Akademický článek

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Akademický článek

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The Effects of Tumstatin on Vascularity, Airway Inflammation and Lung Function in an Experimental Sheep Model of Chronic Asthma

Autor: Emmanuel Koumoundouros, Cathryn L Ugalde, Louise M. Harkness, Donna Barker, Garry Barcham, Heidi Bao, Janette K. Burgess, Joanne Van der Velden, Kenneth J. Snibson, Louise Organ, Ana Tokanovic

Publikováno v: Scientific Reports
Scientific Reports, 6:26309. Nature Publishing Group

Tumstatin, a protein fragment of the alpha-3 chain of Collagen IV, is known to be significantly reduced in the airways of asthmatics. Further, there is evidence that suggests a link between the relatively low level of tumstatin and the induction of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f275f3841fb61c0ce4dfb817981625
https://doi.org/10.1038/srep26309

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Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria

Autor: Voskarides, Konstantinos, Arsali, Maria, Athanasiou, Yiannis, Elia, Avraam, Pierides, Alkis M., Constantinou-Deltas, Constantinos D.

Publikováno v: Pediatric Nephrology
Pediatr.Nephrol.

Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. It is now known that T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffb68de4596aa9826a1120dff2a6c4f4
https://doi.org/10.1007/s00467-011-2084-6

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The role of molecular genetics in diagnosing familial hematuria(s)

Autor: Constantinou-Deltas, Constantinos D., Pierides, Alkis M., Voskarides, Konstantinos

Publikováno v: Pediatric Nephrology (Berlin, Germany)
Pediatric Nephrology
Pediatr.Nephrol.

Familial microscopic hematuria (MH) of glomer-ular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and our ability to use molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7225b5a6cfd3454ab458b6af95d228cf
http://europepmc.org/articles/PMC3382641

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RAAS inhibition and the course of Alport syndrome

Autor: Savva, Isavella, Pierides, Alkis M., Constantinou-Deltas, Constantinos D.

Publikováno v: Pharmacological Research
Pharmacol.Res.

Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder mutations will do so at ol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362bff02e6ee22962933c0166d7ce16c
https://pubmed.ncbi.nlm.nih.gov/26995302

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Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life

Autor: Constantinou-Deltas, Constantinos D., Savva, Isavella, Voskarides, Konstantinos, Papazachariou, Louiza, Pierides, Alkis M.

Publikováno v: Nephron

Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the X-linked form of AS, which is cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e840a61196ab915cf3927f113ea00900
https://pubmed.ncbi.nlm.nih.gov/26201269

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Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure

Autor: Stefanou, Charalambos, Pieri, Myrtani, Savva, Isavella, Georgiou, Georgios C., Pierides, Alkis M., Voskarides, Konstantinos, Constantinou-Deltas, Constantinos D.

Publikováno v: Nephron

Background/Aims: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement membrane nephropathy (TBMN-O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35e9ef084c06ee89ec0d42f8a46a65ff
https://pubmed.ncbi.nlm.nih.gov/26138234

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