AUTOSOMAL-DOMINANT ALPORT SYNDROME LINKED TO MARKERS ON 2Q FLANKING THE COL4A3 COL4A4 GENES

被引：0
|
作者：
JEFFERSON, JA
HUGHES, AE
HILL, C
MAXWELL, AP
DOHERTY, CC
NEVIN, NC
机构：
[1] BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND
[2] QUEENS UNIV BELFAST,DEPT MED GENET,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND
[3] ROYAL VICTORIA HOSP,DEPT PATHOL,BELFAST BT12 6BA,NORTH IRELAND
来源：
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 1994年 / 5卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：647 / 647
页数：1
相关论文
共 50 条
  • [41] ARE KIDNEY CYSTSMORE COMMON IN PEOPLE WITH COL4A3/COL4A4 PATHOGENIC VARIANTS?
    Pilco Teran, Melissa
    Furlano, Monica
    Pybus, Marc
    Martinez Jimenez, Victor
    Rius Peris, Asuncion
    Perez Gomez, Maria Vanessa
    Berna Redondo, Gerson
    Fayos De Arizon, Leonor
    Ars, Elisabet
    Torra, Roser
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2023, 38 : I220 - I221
  • [42] COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome
    Rosado, Consolacion
    Bueno, Elena
    Felipe, Carmen
    Gonzalez-Sarmiento, Rogelio
    INTERNATIONAL JOURNAL OF MOLECULAR EPIDEMIOLOGY AND GENETICS, 2014, 5 (04): : 177 - 184
  • [43] Digenic variations of human COL4A3 and COL4A4 genes result in early onset renal failure
    Rungsung, Ikrormi
    Sahay, Manisha
    Dalal, Ashwin
    GENE REPORTS, 2020, 19
  • [44] Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
    Riedhammer, Korbinian M.
    Simmendinger, Hannes
    Tasic, Velibor
    Putnik, Jovana
    Abazi-Emini, Nora
    Stajic, Natasa
    Berutti, Riccardo
    Weidenbusch, Marc
    Patzer, Ludwig
    Lungu, Adrian
    Milosevski-Lomic, Gordana
    Guenthner, Roman
    Braunisch, Matthias C.
    Comic, Jasmina
    Hoefele, Julia
    CLINICAL GENETICS, 2024, 105 (04) : 406 - 414
  • [45] THIN BASEMENT MEMBRANE NEPHROPATHY DUE TO HETEROZYGOUS COL4A3/COL4A4 MUTATIONS IS A MORE FREQUENT CAUSE OF ESKD COMPARED TO ALPORT SYNDROME
    Arsali, Maria
    Papazachariou, Louiza
    Demosthenous, Panayiota
    Lazarou, Akis
    Hadjigavriel, Michalis
    Stavrou, Christoforos
    Yioukkas, Lakis
    Voskarides, Konstantinos
    Deltas, Constantinos
    Zavros, Michalis
    Pierides, Alkis
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 : 313 - 314
  • [46] Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil
    Washington Candeia de Araújo
    Raul Maia Falcão
    Raquel Araujo Costa Uchoa
    Carlos Alexandre Garcia
    Arthur Quintiliano Bezerra da Silva
    Kesia Larissa Medeiros Quirino
    Francisco Paulo Freire-Neto
    Genilson Pereira Gurgel
    Paulo Ricardo Porfirio Nascimento
    Leonardo Capistrano Ferreira
    Priya Duggal
    Jorge Estefano S. de Souza
    Selma M. B. Jeronimo
    BMC Genomics, 26 (1)
  • [47] Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
    Deng, Haiyue
    Zhang, Yanqin
    Ding, Jie
    Wang, Fang
    FRONTIERS IN MEDICINE, 2022, 9
  • [48] Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome
    Cook, Christine
    Friedrich, Christopher A.
    Baliga, Radhakrishna
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2008, 51 (05) : E25 - E28
  • [49] Novel nonsense mutation in COL4A4 associated with Alport syndrome
    Singh, Kumar Gautam
    Moorthy, Anbalagan
    GENE REPORTS, 2023, 33
  • [50] Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome
    Sirisena, Nirmala D.
    Thalgahagoda, Shenal
    Abeyagunawardena, Asiri
    Neumann, Manuela
    Schmudlach, Hans-Otto
    Jayasekara, Rohan W.
    Dissanayake, Vajira H. W.
    NEPHROLOGY, 2015, 20 (08) : 580 - 580
12345