The 2019 and 2021 International Workshops on Alport Syndrome.
The 2019 and 2021 International Workshops on Alport Syndrome.
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DOI：
10.1038/s41431-022-01075-0
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发表时间：
2022-05
期刊：
影响因子：
--
通讯作者：
Renieri A
中科院分区：
文献类型：
--
作者：
Daga S;Ding J;Deltas C;Savige J;Lipska-Ziętkiewicz BS;Hoefele J;Flinter F;Gale DP;Aksenova M;Kai H;Perin L;Barua M;Torra R;Miner JH;Massella L;Ljubanović DG;Lennon R;Weinstock AB;Knebelmann B;Cerkauskaite A;Gear S;Gross O;Turner AN;Baldassarri M;Pinto AM;Renieri A
1927年，南非医生亚瑟塞西尔·奥尔波特（Arthur Alport）描述了一个患有遗传性肾病的英国家庭，这种疾病对男性的影响比女性更严重，有时还伴有听力损失。1961年，Alport综合征被命名为Alport综合征。在世纪后期，发现了三种与该疾病有关的基因：分别编码IV型胶原蛋白的α3、α4、α5多肽链的COL 4A 3、COL 4A 4和COL 4A 5。这些链在肾小球基底膜中组装形成IV型胶原的异源三聚体。科学家、临床医生、患者代表及其家属以及制药公司参加了10月22日至26日在意大利锡耶纳举行的2019年Alport综合征国际研讨会和11月30日至12月4日举行的2021年在线研讨会。主要议题包括：疾病重新命名，承认需要确定能够反映相当大的临床变异性的适当术语;提高分子诊断率的策略;从单基因到双基因形式的基因型-表型相关性;新疗法和新治疗方法;以及使用基因编辑的基因治疗。在锡耶纳神奇的中世纪环境中建立的特殊合作气氛在2021年的在线研讨会中得以延续。为该部门的主要专家，包括患者和制药公司之间的合作创造了条件，目的是确定Alport综合征的治疗方法。
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth century three genes responsible for the disease were discovered: COL4A3, COL4A4, and COL4A5 encoding for the α3, α4, α5 polypeptide chains of type IV collagen, respectively. These chains assemble to form heterotrimers of type IV collagen in the glomerular basement membrane. Scientists, clinicians, patient representatives and their families, and pharma companies attended the 2019 International Workshop on Alport Syndrome, held in Siena, Italy, from October 22 to 26, and the 2021 online Workshop from November 30 to December 4. The main topics included: disease re-naming, acknowledging the need to identify an appropriate term able to reflect considerable clinical variability; a strategy for increasing the molecular diagnostic rate; genotype-phenotype correlation from monogenic to digenic forms; new therapeutics and new therapeutic approaches; and gene therapy using gene editing. The exceptional collaborative climate that was established in the magical medieval setting of Siena continued in the online workshop of 2021. Conditions were established for collaborations between leading experts in the sector, including patients and drug companies, with the aim of identifying a cure for Alport syndrome.
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IgA肾病的新风险基因座的发现暗示了与肠道病原体免疫有关的基因。
影响因子：
30.8
作者：
Kiryluk, Krzysztof;Li, Yifu;Scolari, Francesco;Sanna-Cherchi, Simone;Choi, Murim;Verbitsky, Miguel;Fasel, David;Lata, Sneh;Prakash, Sindhuri;Shapiro, Samantha;Fischman, Clara;Snyder, Holly J.;Appel, Gerald;Izzi, Claudia;Viola, Battista Fabio;Dallera, Nadia;Del Vecchio, Lucia;Barlassina, Cristina;Salvi, Erika;Bertinetto, Francesca Eleonora;Amoroso, Antonio;Savoldi, Silvana;Rocchietti, Marcella;Amore, Alessandro;Peruzzi, Licia;Coppo, Rosanna;Salvadori, Maurizio;Ravani, Pietro;Magistroni, Riccardo;Ghiggeri, Gian Marco;Caridi, Gianluca;Bodria, Monica;Lugani, Francesca;Allegri, Landino;Delsante, Marco;Maiorana, Mariarosa;Magnano, Andrea;Frasca, Giovanni;Boer, Emanuela;Boscutti, Giuliano;Ponticelli, Claudio;Mignani, Renzo;Marcantoni, Carmelita;Di Landro, Domenico;Santoro, Domenico;Pani, Antonello;Polci, Rosaria;Feriozzi, Sandro;Chicca, Silvana;Galliani, Marco;Gigante, Maddalena;Gesualdo, Loreto;Zamboli, Pasquale;Battaglia, Giovanni Giorgio;Garozzo, Maurizio;Maixnerova, Dita;Tesar, Vladimir;Eitner, Frank;Rauen, Thomas;Floege, Juergen;Kovacs, Tibor;Nagy, Judit;Mucha, Krzysztof;Paczek, Leszek;Zaniew, Marcin;Mizerska-Wasiak, Malgorzata;Roszkowska-Blaim, Maria;Pawlaczyk, Krzysztof;Gale, Daniel;Barratt, Jonathan;Thibaudin, Lise;Berthoux, Francois;Canaud, Guillaume;Boland, Anne;Metzger, Marie;Panzer, Ulf;Suzuki, Hitoshi;Goto, Shin;Narita, Ichiei;Caliskan, Yasar;Xie, Jingyuan;Hou, Ping;Chen, Nan;Zhang, Hong;Wyatt, Robert J.;Novak, Jan;Julian, Bruce A.;Feehally, John;Stengel, Benedicte;Cusi, Daniele;Lifton, Richard P.;Gharavi, Ali G.
通讯作者：
Gharavi, Ali G.
影响因子：
3
作者：
Kashtan, Clifford E.;Ding, Jie;Gregory, Martin;Gross, Oliver;Heidet, Laurence;Knebelmann, Bertrand;Rheault, Michelle;Licht, Christoph
通讯作者：
Licht, Christoph
影响因子：
6
作者：
Boeckhaus J;Gross O
通讯作者：
Gross O
影响因子：
6.1
作者：
Boeckhaus, Jan;Hoefele, Julia;Gross, Oliver
通讯作者：
Gross, Oliver
影响因子：
13.2
作者：
Furlano, Monica;Martinez, Victor;Torra, Roser
通讯作者：
Torra, Roser