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Refinado por: assunto: Mutation remover
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1
Clinical features and genetic analysis of 15 Chinese children with dent disease
Clinical features and genetic analysis of 15 Chinese children with dent disease
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Clinical features and genetic analysis of 15 Chinese children with dent disease

Li, Qian ; Yang, Zhenle ; Zang, Ruixian ; Liu, Suwen ; Yu, Lichun ; Wang, Jing ; Wang, Cong ; Wang, Xiaoyuan ; Sun, Shuzhen

Renal failure, 2024-12, Vol.46 (1), p.2349133-2349133 [Periódico revisado por pares]

England: Taylor & Francis Ltd

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2
Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy
Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy
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Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy

Qin, Yan ; Sun, Xiao-Jing ; Hu, Yi-Fang ; Jing, Meng ; Yu, Xiao-Juan ; Zhao, Ming-Hui ; Tan, Ying

Renal failure, 2024-12, Vol.46 (1), p.2332491-2332491 [Periódico revisado por pares]

England: Taylor & Francis Ltd

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3
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes
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Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes

Abdelwahed, Mayssa ; Benoit, Valerie ; Maalej, Bayen ; Hilbert, Pascale ; Calemard, Laurence Michel ; Kamoun, Hassen ; Ammar-Keskes, Leila ; Belguith, Neila

Gene, 2024-11, Vol.927, p.148625, Article 148625 [Periódico revisado por pares]

Elsevier B.V

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4
Identification of deleterious variants in nine polycystic kidney disease affected families
Identification of deleterious variants in nine polycystic kidney disease affected families
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Identification of deleterious variants in nine polycystic kidney disease affected families

Yuan, Jing ; Shao, Zhongmei ; Lv, Mingrong ; Li, Kuokuo ; Wei, Zhaolian

Gene, 2024-08, Vol.919, p.148505-148505, Article 148505 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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5
Good clinical response following Ibrutinib treatment of a rare case of lymphoplasmacytic lymphoma secreting IgA kappa paraprotein: A case report
Good clinical response following Ibrutinib treatment of a rare case of lymphoplasmacytic lymphoma secreting IgA kappa paraprotein: A case report
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Good clinical response following Ibrutinib treatment of a rare case of lymphoplasmacytic lymphoma secreting IgA kappa paraprotein: A case report

Nikolova, Dragomira ; Yordanov, Alexandar ; Maslarova, Alexandra ; Sokolova, Liliya ; Radinov, Atanas

Oncology letters, 2024-08, Vol.28 (2), Article 338

Athens: Spandidos Publications UK Ltd

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6
Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum
Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum
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Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum

Niedbalska-Tarnowska, Joanna ; Jakubowska, Anna ; Majkowski, Michał ; Pęcherz, Michalina ; Medyńska, Anna ; Mroczek, Robert ; Kiliś-Pstrusińska, Katarzyna ; Cebrat, Małgorzata ; Łaszkiewicz, Agnieszka

Pediatric nephrology (Berlin, West), 2024-08, Vol.39 (8), p.2363-2375 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
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Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

Wang, Duocai ; Pan, Meize ; Li, Hang ; Li, Minchun ; Li, Ping ; Xiong, Fu ; Xiao, Hongbo

BMC medical genomics, 2024-07, Vol.17 (1), p.1-13, Article 181 [Periódico revisado por pares]

London: BioMed Central Ltd

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8
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy
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Nephrocalcinosis can disappear in infants receiving early lumasiran therapy

Kayal, Dima ; Sellier-Leclerc, Anne-Laure ; Acquaviva-Bourdain, Cécile ; de Mul, Aurélie ; Cabet, Sarah ; Bacchetta, Justine

Pediatric nephrology (Berlin, West), 2024-07, Vol.39 (7), p.2079-2082 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
Unraveling the molecular landscape of kAE1: a narrative review
Unraveling the molecular landscape of kAE1: a narrative review
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Unraveling the molecular landscape of kAE1: a narrative review

Mungara, Priyanka ; Waiss, Moubarak ; Hartwig, Sunny ; Burger, Dylan ; Cordat, Emmanuelle

Canadian journal of physiology and pharmacology, 2024-07, Vol.102 (7), p.396-407 [Periódico revisado por pares]

Canada: Canadian Science Publishing NRC Research Press

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10
Revisiting the gene mutations and protein profile of WT 9‐12: An autosomal dominant polycystic kidney disease cell line
Revisiting the gene mutations and protein profile of WT 9‐12: An autosomal dominant polycystic kidney disease cell line
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Revisiting the gene mutations and protein profile of WT 9‐12: An autosomal dominant polycystic kidney disease cell line

Chai, Hwa Chia ; Mahendran, Rhubaniya ; Ong, Kien Chai ; Chua, Kek Heng

Genes to cells : devoted to molecular & cellular mechanisms, 2024-07, Vol.29 (7), p.599-607 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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  3. Felix, W  (1)
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Deste Autor:

  1. Onuchic, L
  2. Fonseca, J
  3. Felix, W
  4. Bastos, A

Neste Assunto:

  1. Mutation
  2. Mutation
  3. Science & Technology
  4. Kidney Diseases
  5. Life Sciences & Biomedicine

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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