Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome

被引：1
|
作者：
Buhl, Nicole [1 ,2 ]
Pfister, Eva-Doreen [1 ]
Bohne, Jens [3 ]
Baumann, Ulrich [1 ]
Hartleben, Bjoern [4 ]
Schlegelberger, Brigitte [2 ]
Illig, Thomas [5 ]
Skawran, Britta [2 ]
Stalke, Amelie [1 ,2 ]
机构：
[1] Hannover Med Sch, Dept Pediat Liver Kidney & Metab Dis, Div Pediat Gastroenterol & Hepatol, Hannover, Germany
[2] Hannover Med Sch, Dept Human Genet, Hannover, Germany
[3] Hannover Med Sch, Inst Virol, Hannover, Germany
[4] Hannover Med Sch, Inst Pathol, Hannover, Germany
[5] Hannover Med Sch, Hannover Unified Biobank, Hannover, Germany
来源：
CLINICAL GENETICS | 2022年 / 102卷 / 03期
关键词：
D O I：
10.1111/cge.14179
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：248 / 250
页数：3
相关论文
共 50 条
  • [21] Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
    Jurkiewicz, Dorota
    Gliwicz, Dorota
    Ciara, Elzbieta
    Gerfen, Jennifer
    Pelc, Magdalena
    Piekutowska-Abramczuk, Dorota
    Kugaudo, Monika
    Chrzanowska, Krystyna
    Spinner, Nancy B.
    Krajewska-Walasek, Magorzata
    JOURNAL OF APPLIED GENETICS, 2014, 55 (03) : 329 - 336
  • [22] Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome
    Onouchi, Y
    Kurahashi, H
    Tajiri, H
    Ida, S
    Okada, S
    Nakamura, Y
    JOURNAL OF HUMAN GENETICS, 1999, 44 (04) : 235 - 239
  • [23] Mutation spectrum within the human JAG1 gene in Alagille syndrome
    Roepke, A
    Kujat, A
    Graeber, M
    Hansmann, I
    Giannakudis, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 379 - 379
  • [24] Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome
    Yoshihiro Onouchi
    Hiroki Kurahashi
    Hitoshi Tajiri
    Shinobu Ida
    Shintaro Okada
    Y. Nakamura
    Journal of Human Genetics, 1999, 44 : 235 - 239
  • [25] Erratum: Parental mosaicism of JAG1 mutations in families with Alagille syndrome
    Joannis Giannakudis
    Albrecht Röpke
    Annegret Kujat
    Malgorzata Krajewska-Walasek
    Helen Hughes
    Jean-Pierre Fryns
    Agnes Bankier
    David Amor
    Mike Schlicker
    Ingo Hansmann
    European Journal of Human Genetics, 2001, 9 : 559 - 559
  • [26] Mutations in Jagged1 (JAG1) cause Alagille syndrome.
    Krantz, ID
    Li, L
    Colliton, RP
    Genin, A
    Rand, E
    Piccoli, DA
    Hood, L
    Spinner, NB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A10 - A10
  • [27] Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
    Heritage, ML
    MacMillan, JC
    Colliton, RP
    Genin, A
    Spinner, NB
    Anderson, GJ
    HUMAN MUTATION, 2000, 16 (05) : 408 - 416
  • [28] Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome
    Morrissette, JJD
    Colliton, RP
    Spinner, NB
    HUMAN MOLECULAR GENETICS, 2001, 10 (04) : 405 - 413
  • [29] Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
    Feng, Xiufang
    Ping, Jiangyuan
    Gao, Shan
    Han, Dong
    Song, Wenxia
    Li, Xiaoze
    Tao, Yilun
    Wang, Lihong
    SCIENTIFIC REPORTS, 2024, 14 (01)
  • [30] Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome
    Munoz-Aguilar, Gemma
    Domingo-Triado, Ignacio
    Maravall-Llagaria, Maria
    Alcon-Saez, Jose J.
    Rodriguez-Lopez, Raquel
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2017, 64 (05): : E135 - E136
12345