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Search life-sciences literature (45,104,145 articles, preprints and more)

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Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment
Crooke ST, Cole T, Carroll JB, Gleeson JG, Mignon L, Douville J, Chung W, Bain J, Berry-Kravis E, Leung N, Watt A, Powers B, Tekendo-Ngongang C, Kmoch S, Vyletal P, Glass S
medRxiv, 06 Aug 2024
Cited by: 0 articles | PPR: PPR891175
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A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.
Elhassan EAE, Kmochová T, Benson KA, Fennelly NK, Barešová V, Kidd K, Doyle B, Dorman A, Morrin MM, Kyne NC, Vyleťal P, Hartmannová H, Hodaňová K, Sovová J, Mušálková D, Vrbacká A, Přistoupilová A, Živný J, Svojšová K, [...] Živná M
Kidney Int Rep, 9(7):2209-2226, 15 Apr 2024
Cited by: 0 articles | PMID: 39081747 | PMCID: PMC11284371
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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, [...] Kmoch S
Kidney Int, 105(4):799-811, 12 Dec 2023
Cited by: 0 articles | PMID: 38096951
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AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
Živná M, Dostálová G, Barešová V, Mušálková D, Kuchař L, Asfaw B, Poupětová H, Vlášková H, Kmochová T, Vyletal P, Hartmannová H, Hodaňová K, Stránecký V, Steiner-Mrázová L, Hnízda A, Radina M, Votruba M, Sovová J, Trešlová H, [...] Kmoch S
bioRxiv, 28 Sep 2022
Cited by: 0 articles | PPR: PPR551604
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Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
Sicking M, Živná M, Bhadra P, Barešová V, Tirincsi A, Hadzibeganovic D, Hodaňová K, Vyleťal P, Sovová J, Jedličková I, Jung M, Bell T, Helms V, Bleyer AJ, Kmoch S, Cavalié A, Lang S
Life Sci Alliance, 5(4):e202101150, 21 Jan 2022
Cited by: 9 articles | PMID: 35064074 | PMCID: PMC8807872
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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, [...] Bleyer AJ
Kidney Int, 98(6):1589-1604, 01 Aug 2020
Cited by: 20 articles | PMID: 32750457 | PMCID: PMC7719087
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Quality of life in patients with autosomal dominant tubulointerstitial kidney disease .
Bleyer AJ, Kidd K, Johnson E, Robins V, Martin L, Taylor A, Pinder AJ, Bowline I, Frankova V, Živná M, Taylor KB, Kim N, Baek JJ, Hartmannová H, Hodaňová K, Vyleťal P, Votruba M, Kmoch S
Clin Nephrol, 92(6):302-311, 01 Dec 2019
Cited by: 1 article | PMID: 31587753
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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I, Cadieux-Dion M, Přistoupilová A, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Hůlková H, Sikora J, Nosková L, Mušálková D, Vyleťal P, Sovová J, Cossette P, Andermann E, Andermann F, Kmoch S, Adult NCL Gene Discovery Consortium
Eur J Hum Genet, 28(6):783-789, 09 Jan 2020
Cited by: 9 articles | PMID: 31919451 | PMCID: PMC7253421
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Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.
Bleyer AJ, Kidd K, Robins V, Martin L, Taylor A, Santi A, Tsoumas G, Hunt A, Swain E, Abbas M, Akinbola E, Vidya S, Moossavi S, Bleyer AJ, Živná M, Hartmannová H, Hodaňová K, Vyleťal P, Votruba M, [...] Kmoch S
Genet Med, 22(1):142-149, 24 Jul 2019
Cited by: 8 articles | PMID: 31337885 | PMCID: PMC6946861
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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, [...] Kmoch S
J Am Soc Nephrol, 29(9):2418-2431, 02 Jul 2018
Cited by: 22 articles | PMID: 29967284 | PMCID: PMC6115665
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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, [...] Loeys BL
Am J Hum Genet, 99(1):174-187, 01 Jul 2016
Cited by: 77 articles | PMID: 27392076 | PMCID: PMC5005467
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Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.
Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I
Clin Chim Acta, 413(1-2):93-99, 22 Sep 2011
Cited by: 25 articles | PMID: 21963464
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Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.
Bleyer AJ, Zivná M, Hulková H, Hodanová K, Vyletal P, Sikora J, Zivný J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS
Clin Nephrol, 74(6):411-422, 01 Dec 2010
Cited by: 25 articles | PMID: 21084044 | PMCID: PMC4264543
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Uromodulin biology and pathophysiology--an update.
Vyletal P, Bleyer AJ, Kmoch S
Kidney Blood Press Res, 33(6):456-475, 25 Nov 2010
Cited by: 51 articles | PMID: 21109754
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Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, [...] Kozich V
Hum Mutat, 28(3):255-264, 01 Mar 2007
Cited by: 11 articles | PMID: 17072863 | PMCID: PMC2630376
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Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
Hodanová K, Majewski J, Kublová M, Vyletal P, Kalbácová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S
Kidney Int, 68(4):1472-1482, 01 Oct 2005
Cited by: 22 articles | PMID: 16164624
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1-16 of 16 results

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease .

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

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

Uromodulin biology and pathophysiology--an update.

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

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