PMC Articles for MedGen (Select 1787773) - PMC

Select item 99018991.

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population

Matija Horaček, Tamara Nikuševa Martić, Petar Šenjug, Marija Šenjug Perica, Maja Oroz, Sania Kuzmac, Dragan Klarić, Merica Glavina Durdov, Marijan Saraga, Danko Milošević, Danica Batinić, Marijana Ćorić, Frane Paić, Danica Galešić Ljubanović

Biomol Biomed. 2023 Feb 1; 23(1): 89–100. Published online 2023 Jan 6. doi: 10.17305/bjbms.2022.7567

PMCID:: PMC9901899

Abstract Article PDF–5.4M

Select item 97780322.

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Despina Hadjipanagi, Gregory Papagregoriou, Constantina Koutsofti, Christiana Polydorou, Polichronis Alivanis, Aimilios Andrikos, Stalo Christodoulidou, Manthos Dardamanis, Athanasios A. Diamantopoulos, Anastasios Fountoglou, Eleni Frangou, Eleni Georgaki, Ioannis Giannikouris, Velissarios Gkinis, Pavlos C. Goudas, Rigas G. Kalaitzidis, Nikolaos Kaperonis, Georgios Koutroumpas, George Makrydimas, Grigorios Myserlis, Andromachi Mitsioni, Christos Paliouras, Fotios Papachristou, Dorothea Papadopoulou, Nikolaos Papagalanis, Aikaterini Papagianni, Garyfalia Perysinaki, Ekaterini Siomou, Konstantinos Sombolos, Ioannis Tzanakis, Georgios V. Vergoulas, Nicoletta Printza, Constantinos Deltas

Genes (Basel) 2022 Dec; 13(12): 2203. Published online 2022 Nov 24. doi: 10.3390/genes13122203

PMCID:: PMC9778032

Abstract Article PDF–1.0M

Select item 88060983.

Glomerular Endothelial Cell-Derived microRNA-192 Regulates Nephronectin Expression in Idiopathic Membranous Glomerulonephritis

Janina Müller-Deile, Nina Sopel, Alexandra Ohs, Victoria Rose, Marwin Gröner, Christoph Wrede, Jan Hegermann, Christoph Daniel, Kerstin Amann, Gunther Zahner, Mario Schiffer

J Am Soc Nephrol. 2021 Nov; 32(11): 2777–2794. Published online 2021 Nov. doi: 10.1681/ASN.2020121699

PMCID:: PMC8806098

Abstract Article

Select item 84948524.

LMX1B-associated nephropathy that showed myelin figures on electron microscopy

Homare Shimohata, Yusuke Miyake, Yu Yoshida, Joichi Usui, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kouichi Hirayama, Masaki Kobayashi

CEN Case Rep. 2021 Nov; 10(4): 588–591. Published online 2021 Jun 2. doi: 10.1007/s13730-021-00612-y

PMCID:: PMC8494852

Abstract Article PDF–732K

Select item 82759425.

Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series

Petar Šenjug, Tamara Nikuševa, Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Kristina Gotovac, Jerčić, Krešimir Galešić, Danica Galešić, Ljubanović

Croat Med J. 2021 Jun; 62(3): 204–214. doi: 10.3325/cmj.2021.62.204

PMCID:: PMC8275942

Abstract Article PDF–1.2M

Select item 73716586.

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

Aya Imafuku, Kandai Nozu, Naoki Sawa, Koichi Nakanishi, Yoshifumi Ubara

Clin Exp Nephrol. 2020; 24(8): 651–656. Published online 2020 Mar 30. doi: 10.1007/s10157-020-01880-1

PMCID:: PMC7371658

Abstract Article PDF–459K

Select item 67674087.

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically

Aya Imafuku, Kandai Nozu, Naoki Sawa, Eiko Hasegawa, Rikako Hiramatsu, Masahiro Kawada, Junichi Hoshino, Kiho Tanaka, Yasuo Ishii, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Kazumoto Iijima, Yoshifumi Ubara

Nephrology (Carlton) 2018 Oct; 23(10): 940–947. Published online 2018 Sep 24. doi: 10.1111/nep.13115

PMCID:: PMC6767408

Abstract Article PDF–3.0M

Select item 50231108.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

PLoS One. 2016; 11(9): e0161802. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0161802

PMCID:: PMC5023110

Abstract Article PDF–276K

Select item 49748729.

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

Naohiro Kamiyoshi, Kandai Nozu, Xue Jun Fu, Naoya Morisada, Yoshimi Nozu, Ming Juan Ye, Aya Imafuku, Kenichiro Miura, Tomohiko Yamamura, Shogo Minamikawa, Akemi Shono, Takeshi Ninchoji, Ichiro Morioka, Koichi Nakanishi, Norishige Yoshikawa, Hiroshi Kaito, Kazumoto Iijima

Clin J Am Soc Nephrol. 2016 Aug 8; 11(8): 1441–1449. Published online 2016 Jun 8. doi: 10.2215/CJN.01000116

PMCID:: PMC4974872

Abstract Article

Select item 153574910.

The gene corresponding to the putative Goodpasture antigen is present in Alport's syndrome.

J A Savige

Clin Exp Immunol. 1991 Aug; 85(2): 236–239. doi: 10.1111/j.1365-2249.1991.tb05711.x

PMCID:: PMC1535749

Summary Page Browse PDF–784K

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