ADPKD phenocopies and a novel frameshift variant in COL4A1: a case report

被引：0

作者：

Mioli, Fiorenza ^{[1
,2
]}

Arruga, Francesca ^{[1
]}

Bracciama, Valeria ^{[1
,2
]}

Carli, Diana ^{[1
,2
]}

Faini, Angelo Corso ^{[1
,2
]}

del Prever, Giulia Margherita Brach ^{[1
,2
]}

Luca, Maria ^{[1
,2
]}

Romeo, Carmelo Maria ^{[1
,2
]}

Scolari, Caterina ^{[1
,2
]}

Saglia, Claudia ^{[1
,2
]}

Gai, Massimo ^{[3
]}

Giraudi, Roberta ^{[3
]}

Biancone, Luigi ^{[2
,3
]}

Vaisitti, Tiziana ^{[1
,2
]}

Deaglio, Silvia ^{[1
,2
]}

机构：

[1] AOU Citta Salute Scienza Turin, Immunogenet & Transplant Biol, Turin, Italy

[2] Univ Turin, Dept Med Sci, Turin, Italy

[3] AOU Citta Salute Scienza Turin, Nephrol Dialysis & Transplantat, Turin, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P05.018.B

引用

页码：1351 / 1352

页数：2

共 50 条

[31] A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen
Gale, Daniel P.
Oygar, D. Deren
Lin, Fujun
Oygar, P. Derin
Khan, Nadia
Connor, Thomas M. F.
Lapsley, Marta
Maxwell, Patrick H.
Neild, Guy H.
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2016, 31 (11) : 1908 - 1914
[32] Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus
Lin, Qinghong
Wang, Xuejun
Peng, Xiaoliao
Han, Tian
Sun, Ling
Zhang, Xiaoyu
Zhou, Xingtao
FRONTIERS IN GENETICS, 2025, 16
[33] COL4A1 and COL4A2 are novel HTLV-1 tax targets with a putative role in virus transmission
Gross, Christine
Millen, Sebastian
Mann, Melanie
Uberla, Klaus
Thoma-Kress, Andrea K.
RETROVIROLOGY, 2016, 13
[34] The correlation and role analysis of COL4A1 and COL4A2 in hepatocarcinogenesis
Liu, Yanli
Zhang, Jiaye
Chen, Yan
Sohel, Hasan
Ke, Xinrong
Chen, Jingqi
Li, Yin-Xiong
AGING-US, 2020, 12 (01): : 204 - 223
[35] COL4A1 and fetal vascular origins of schizencephaly
Khalid, Roha
Krishnan, Pradeep
Andres, Kathleen
Blaser, Susan
Miller, Steven
Moharir, Mahendranath
Dlamini, Nomazulu
NEUROLOGY, 2018, 90 (05) : 232 - 234
[36] COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Kitzler, Thomas M.
Schneider, Ronen
Kohl, Stefan
Kolvenbach, Caroline M.
Connaughton, Deryla M.
Dai, Rufeng
Mann, Nina
Nakayama, Makiko
Majmundar, Amar J.
Wu, Chen-Han W.
Kari, Jameela A.
El Desoky, Sherif M.
Senguttuvan, Prabha
Bogdanovic, Radovan
Stajic, Natasa
Valivullah, Zaheer
Lek, Monkol
Mane, Shrikant
Lifton, Richard P.
Tasic, Velibor
Shril, Shirlee
Hildebrandt, Friedhelm
HUMAN GENETICS, 2019, 138 (10) : 1105 - 1115
[37] Ophthalmological Features Associated With COL4A1 Mutations
Coupry, Isabelle
Sibon, Igor
Mortemousque, Bruno
Rouanet, Francois
Mine, Manuele
Goizet, Cyril
ARCHIVES OF OPHTHALMOLOGY, 2010, 128 (04) : 483 - 489
[38] COL4A1 Mutation in Preterm Intraventricular Hemorrhage
Bilguvar, Kaya
DiLuna, Michael L.
Bizzarro, Matthew J.
Bayri, Yasar
Schneider, Karen C.
Lifton, Richard P.
Gunel, Murat
Ment, Laura R.
JOURNAL OF PEDIATRICS, 2009, 155 (05): : 743 - 745
[39] COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Thomas M. Kitzler
Ronen Schneider
Stefan Kohl
Caroline M. Kolvenbach
Dervla M. Connaughton
Rufeng Dai
Nina Mann
Makiko Nakayama
Amar J. Majmundar
Chen-Han W. Wu
Jameela A. Kari
Sherif M. El Desoky
Prabha Senguttuvan
Radovan Bogdanovic
Natasa Stajic
Zaheer Valivullah
Monkol Lek
Shrikant Mane
Richard P. Lifton
Velibor Tasic
Shirlee Shril
Friedhelm Hildebrandt
Human Genetics, 2019, 138 : 1105 - 1115
[40] Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Patel, Heerali
Elkhwad, Mohammed
Martin, Gregory C.
AMERICAN JOURNAL OF CASE REPORTS, 2023, 24

← 1 2 3 4 5 →