A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia

被引：0
|
作者：
L. Martins
E.L. dos Santos
A.B. de Almeida
R.A. Machado
A.M. Lyrio
B.L. Foster
K.R. Kantovitz
R.D. Coletta
F.H. Nociti
机构：
[1] State University of Campinas - UNICAMP,Department of Prosthodontics and Periodontics, Division of Periodontics, Piracicaba Dental School
[2] The Ohio State University,Division of Biosciences, College of Dentistry
[3] State University of Campinas - UNICAMP,Department of Oral Diagnosis, Piracicaba Dental School
[4] University of São Paulo (HRAC/USP),Hospital for Rehabilitation of Craniofacial Anomalies
[5] Pontifical Catholic University of Campinas,Department of Dental Materials
[6] São Leopoldo Research Center,undefined
来源：
Osteoporosis International | 2020年 / 31卷
关键词：
Alkaline phosphatase; De novo mutation; Hypophosphatasia; Nonsense mutation; 3D modeling;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：2251 / 2257
页数：6
相关论文
共 50 条
  • [1] A novel de novo heterozygousALPLnonsense mutation associated with adult hypophosphatasia
    Martins, L.
    dos Santos, E. L.
    de Almeida, A. B.
    Machado, R. A.
    Lyrio, A. M.
    Foster, B. L.
    Kantovitz, K. R.
    Coletta, R. D.
    Nociti Jr, F. H.
    [J]. OSTEOPOROSIS INTERNATIONAL, 2020, 31 (11) : 2251 - 2257
  • [2] Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
    Bhadada, Sanjay K.
    Pal, Rimesh
    Dhiman, Vandana
    Alonso, Nerea
    Ralston, Stuart H.
    Kaur, Simran
    Gupta, Rajat
    [J]. BONE REPORTS, 2020, 12
  • [3] Mild Hypophosphatasia in a Family with a Novel Mutation in the ALPL gene
    Hong, Yong Hee
    Chung, Sochung
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 518 - 518
  • [4] An Infantile Hypophosphatasia with Novel Mutation in ALPL Gene: A Case Report
    Wejaphikul, Karn
    Sinthuprasith, Pattharaphorn
    Fanhchaksai, Kanda
    Kangsuwan, Supakanya
    Damrongmanee, Alisara
    Kittisakmontri, Kulnipa
    Puttawong, Dolrutai
    Unachak, Kevalee
    Dejkhamron, Prapai
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 486 - 487
  • [5] A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family
    Huang, Huajie
    Wang, Jian
    Liang, Yingyin
    Wei, Xiaofeng
    Guo, Dan
    Sun, Hengbiao
    Zhang, Xuelian
    Xu, Xiangmin
    Xiong, Fu
    [J]. EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2020, 20 (06)
  • [6] A NOVEL MUTATION IN ALPL GENE CAUSING ADULT AUTOSOMAL DOMINANT HYPOPHOSPHATASIA IN A FAMILY OF SOUTHERN SPAIN: PHENOTYPE CHARACTERIZATION
    Leal Rodriguez, S.
    Roldan Ruiz, N.
    Mayordomo, L.
    Bobillo-Lobato, J.
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2023, 82 : 428 - 429
  • [7] A unique poikilodermatous condition associated with a de novo heterozygous ATR mutation
    Petrof, G.
    Lovgren, M. -L.
    Ogboli, M.
    Ryan, G.
    Moss, C.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2019, 181 : 81 - 82
  • [8] First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review
    Park, Eu Gene
    Cho, Sung Yoon
    Lee, Jeehun
    Kim, Jihyun
    Cho, Heeyeon
    Kim, Jinsup
    Huh, Rimm
    Ki, Chang-Seok
    Kim, Ok-Hwa
    Jin, Dong-Kyu
    [J]. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2016, 46 (03): : 302 - 307
  • [9] Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
    Nur, Banu Guzel
    Celmeli, Gamze
    Manguoglu, Esra
    Soyucen, Erdogan
    Bircan, Iffet
    Mihci, Ercan
    [J]. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (03) : 360 - 364
  • [10] Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface
    Martins, Luciane
    Lessa, Luis Gustavo F.
    Ali, Taccyanna M. M.
    Lazar, Monize
    Kim, Chong A. A.
    Kantovitz, Kamila R. R.
    Santamaria, Mauro P. P.
    Araujo, Cassia F.
    Ramos, Carolina J. J.
    Foster, Brian L. L.
    Franco, Jose Francisco S.
    Bertola, Debora
    Nociti Jr, Francisco H. H.
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (01)
12345