Literature DB >> 29449435

Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism.

Xiong Wang1, Na Shen1, Ming Huang1, Yanjun Lu2, Qun Hu3.   

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Year:  2018        PMID： 29449435      PMCID： PMC5927983          DOI： 10.3324/haematol.2017.186551

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin.

Authors:  P G Gallagher; W T Tse; A L Scarpa; S E Lux; B G Forget
Journal:  Trans Assoc Am Physicians       Date:  1992

2.  A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.

Authors:  Chao Wang; Yazhou Cui; Yan Li; Xiao Liu; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2015-05

Review 3.  A genomic view of mosaicism and human disease.

Authors:  Leslie G Biesecker; Nancy B Spinner
Journal:  Nat Rev Genet       Date:  2013-05       Impact factor: 53.242

Review 4.  Mosaicism in Cutaneous Disorders.

Authors:  Young H Lim; Zoe Moscato; Keith A Choate
Journal:  Annu Rev Genet       Date:  2017-11-27       Impact factor: 16.830

5.  Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update.

Authors:  Paula H B Bolton-Maggs; Jacob C Langer; Achille Iolascon; Paul Tittensor; May-Jean King
Journal:  Br J Haematol       Date:  2011-11-05       Impact factor: 6.998

6.  Deficient red-cell spectrin in severe, recessively inherited spherocytosis.

Authors:  P Agre; E P Orringer; V Bennett
Journal:  N Engl J Med       Date:  1982-05-13       Impact factor: 91.245

7.  Structure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin function.

Authors:  Chao Wang; Cong Yu; Fei Ye; Zhiyi Wei; Mingjie Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2012-03-12       Impact factor: 11.205

8.  beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.

Authors:  D S Bassères; A S Duarte; H Hassoun; F F Costa; S T Saad
Journal:  Br J Haematol       Date:  2001-11       Impact factor: 6.998

9.  SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information.

Authors:  Marco Biasini; Stefan Bienert; Andrew Waterhouse; Konstantin Arnold; Gabriel Studer; Tobias Schmidt; Florian Kiefer; Tiziano Gallo Cassarino; Martino Bertoni; Lorenza Bordoli; Torsten Schwede
Journal:  Nucleic Acids Res       Date:  2014-04-29       Impact factor: 16.971

10.  Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

Authors:  Ian M Campbell; Bo Yuan; Caroline Robberecht; Rolph Pfundt; Przemyslaw Szafranski; Meriel E McEntagart; Sandesh C S Nagamani; Ayelet Erez; Magdalena Bartnik; Barbara Wiśniowiecka-Kowalnik; Katie S Plunkett; Amber N Pursley; Sung-Hae L Kang; Weimin Bi; Seema R Lalani; Carlos A Bacino; Mala Vast; Karen Marks; Michael Patton; Peter Olofsson; Ankita Patel; Joris A Veltman; Sau Wai Cheung; Chad A Shaw; Lisenka E L M Vissers; Joris R Vermeesch; James R Lupski; Paweł Stankiewicz
Journal:  Am J Hum Genet       Date:  2014-07-31       Impact factor: 11.025
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  2 in total

1.  Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.

Authors:  Xiong Wang; Aiguo Liu; Yanjun Lu; Qun Hu
Journal:  Mol Med Rep       Date:  2019-02-08       Impact factor: 2.952

2.  Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.

Authors:  Xiong Wang; Guijiao Zhang; Yanjun Lu; Xiaoping Luo; Wei Wu
Journal:  Mol Genet Genomic Med       Date:  2020-12-15       Impact factor: 2.183
  2 in total

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