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Quoted phrase not found in phrase index: "Nephrotic Syndrome - LAMB2 Associated"
Page 1
The etiology of congenital nephrotic syndrome: current status and challenges.
Wang JJ, Mao JH. Wang JJ, et al. World J Pediatr. 2016 May;12(2):149-58. doi: 10.1007/s12519-016-0009-y. Epub 2016 Mar 9. World J Pediatr. 2016. PMID: 26961288 Review.
BACKGROUND: Congenital nephrotic syndrome (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may be caused by congenital syphilis, toxoplasmosis, or congenital viral infections (such as cytomega …
BACKGROUND: Congenital nephrotic syndrome (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema prese …
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA, Safdar OY, El-Desoky SM, Kari JA. Sharief SN, et al. World J Pediatr. 2019 Apr;15(2):198-203. doi: 10.1007/s12519-018-00224-0. Epub 2019 Feb 5. World J Pediatr. 2019. PMID: 30721404
BACKGROUND: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations. This study aimed to analyze all genetic mutations associated with congenital and infantile neph …
BACKGROUND: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration invo …
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
Tahoun M, Chandler JC, Ashton E, Haston S, Hannan A, Kim JS, D'Arco F, Bockenhauer D, Anderson G, Lin MH, Marzouk S, Saied MH, Miner JH, Dattani MT, Waters AM. Tahoun M, et al. J Clin Endocrinol Metab. 2020 Mar 1;105(3):595-9. doi: 10.1210/clinem/dgz216. J Clin Endocrinol Metab. 2020. PMID: 31769495 Free PMC article.
CONTEXT: Mutations in LAMB2, encoding the basement membrane protein, laminin beta2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndr …
CONTEXT: Mutations in LAMB2, encoding the basement membrane protein, laminin beta2, are associated with an autosomal recessive …
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ, Kim Y, Chen YM. Park SJ, et al. Pediatr Nephrol. 2019 Sep;34(9):1493-1500. doi: 10.1007/s00467-018-4031-2. Epub 2018 Aug 11. Pediatr Nephrol. 2019. PMID: 30099615 Free PMC article. Review.
Mutations in nephrin (NPHS1), podocin (NPHS2), laminin beta2 (LAMB2), and alpha-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV alpha chains (COL4A) have …
Mutations in nephrin (NPHS1), podocin (NPHS2), laminin beta2 (LAMB2), and alpha-actinin-4 (ACTN4) have been shown to induce ER stress …
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V, Gucev Z, Polenakovic M. Tasic V, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(3):5-12. doi: 10.1515/prilozi-2015-0073. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015. PMID: 27442391 Free article. Review.
Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. ...Hildebrandt's group has shown that 85% of the SRNS cases with onset by 3 months of age and 66% with onset by 1 year of age can be explaine …
Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. . …
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA. Al Riyami MS, et al. Mol Genet Genomic Med. 2023 Sep;11(9):e2201. doi: 10.1002/mgg3.2201. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204080 Free PMC article.
BACKGROUND: Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (<3.5 g/dL), edema, and hyperlipidemia. ...Pathogenic variants in …
BACKGROUND: Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined …
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM, Parmar G, Mistry KN, Gang S, Rank DN, Joshi CG. Thakor JM, et al. Mol Biol Rep. 2021 Nov;48(11):7193-7201. doi: 10.1007/s11033-021-06711-4. Epub 2021 Sep 21. Mol Biol Rep. 2021. PMID: 34546508
BACKGROUND: Nephrotic syndrome appears as a group of symptoms like proteinuria, edema and hyperlipidemia. ...METHODS AND RESULTS: We performed Illumina panel sequencing of seven genes in 90 Indian patients to determine the role of these genetic mutations in nephr …
BACKGROUND: Nephrotic syndrome appears as a group of symptoms like proteinuria, edema and hyperlipidemia. ...METHODS AND RESUL …
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.
Zemrani B, Cachat F, Bonny O, Giannoni E, Durig J, Fellmann F, Chehade H. Zemrani B, et al. Eur J Med Res. 2016 Apr 30;21:19. doi: 10.1186/s40001-016-0215-z. Eur J Med Res. 2016. PMID: 27130041 Free PMC article.
It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. ...The index case presented at birth with bilateral m …
It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with geno …
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
Qiu L, Zhou J. Qiu L, et al. BMC Pediatr. 2016 Mar 22;16:44. doi: 10.1186/s12887-016-0583-0. BMC Pediatr. 2016. PMID: 27004562 Free PMC article.
BACKGROUND: LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. ...We report an extr …
BACKGROUND: LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characteriz …
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.
Kino J, Tsukaguchi H, Kimata T, Nguyen HT, Nakano Y, Miyake N, Matsumoto N, Kaneko K. Kino J, et al. BMC Nephrol. 2017 Jul 6;18(1):220. doi: 10.1186/s12882-017-0632-4. BMC Nephrol. 2017. PMID: 28683731 Free PMC article.
BACKGROUND: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. ...Heterogeneous clinical expression of LAMB2 defects may associate with the difference in fetal beta1 subtype compe …
BACKGROUND: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of g …
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