Literature DB >> 24895341

Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.

Hannah Bogardus1, Vincent P Schulz1, Yelena Maksimova1, Barbara A Miller2, Peining Li3, Bernard G Forget4, Patrick G Gallagher5.   

Abstract

Entities:  

Keywords:  anemia; chromosome 1q; erythrocyte; isodisomy; membrane; spectrin; spherocytosis; uniparental disomy

Mesh：

Substances：

Year:  2014        PMID： 24895341      PMCID： PMC4562552          DOI： 10.3324/haematol.2014.110312

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


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  14 in total

1.  Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.

Authors:  J Delaunay; V Nouyrigat; A Proust; P-O Schischmanoff; T Cynober; J Yvart; C Gaillard; O Danos; G Tchernia
Journal:  Br J Haematol       Date:  2004-10       Impact factor: 6.998

Review 2.  A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.

Authors:  Eric Engel
Journal:  Eur J Hum Genet       Date:  2006-05-17       Impact factor: 4.246

3.  Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.

Authors:  Y Indo; S Mardy; Y Miura; A Moosa; E A Ismail; E Toscano; G Andria; V Pavone; D L Brown; A Brooks; F Endo; I Matsuda
Journal:  Hum Mutat       Date:  2001-10       Impact factor: 4.878

4.  Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis.

Authors:  D Wattanasirichaigoon; P Promsonthi; A Chuansumrit; J Leopairut; P Yanatatsaneejit; P Rattanatanyong; T Munkongdee; S Fucharoen; A Mutirangura
Journal:  Clin Genet       Date:  2008-06-28       Impact factor: 4.438

5.  Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.

Authors:  Jeffrey J Swensen; Archana M Agarwal; Jose M Esquilin; Sabina Swierczek; Ajay Perumbeti; Dottie Hussey; Margaret Lee; Clinton H Joiner; Genevieve Pont-Kingdon; Elaine Lyon; Josef T Prchal
Journal:  Blood       Date:  2010-07-01       Impact factor: 22.113

6.  Clinical and molecular evaluation of non-dominant hereditary spherocytosis.

Authors:  E Miraglia del Giudice; B Nobili; M Francese; L D'Urso; A Iolascon; S Eber; S Perrotta
Journal:  Br J Haematol       Date:  2001-01       Impact factor: 6.998

Review 7.  Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.

Authors:  Stefan Eber; Samuel E Lux
Journal:  Semin Hematol       Date:  2004-04       Impact factor: 3.851

8.  Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis.

Authors:  C F Whitfield; J B Follweiler; L Lopresti-Morrow; B A Miller
Journal:  Blood       Date:  1991-12-01       Impact factor: 22.113

9.  {beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.

Authors:  Jan-Gowth Chang; Wen-Chan Tsai; Inn-Wen Chong; Chao-Sung Chang; Chyi-Chang Lin; Ta-Chih Liu
Journal:  Haematologica       Date:  2008-04-15       Impact factor: 9.941

10.  Hereditary spherocytosis.

Authors:  Silverio Perrotta; Patrick G Gallagher; Narla Mohandas
Journal:  Lancet       Date:  2008-10-18       Impact factor: 79.321
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  3 in total

Review 1.  Old and new insights into the diagnosis of hereditary spherocytosis.

Authors:  Olga Ciepiela
Journal:  Ann Transl Med       Date:  2018-09

2.  Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Authors:  Satheesh Chonat; Mary Risinger; Haripriya Sakthivel; Omar Niss; Jennifer A Rothman; Loan Hsieh; Stella T Chou; Janet L Kwiatkowski; Eugene Khandros; Matthew F Gorman; Donald T Wells; Tamara Maghathe; Neha Dagaonkar; Katie G Seu; Kejian Zhang; Wenying Zhang; Theodosia A Kalfa
Journal:  Front Physiol       Date:  2019-10-18       Impact factor: 4.566

Review 3.  Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.

Authors:  Roberta Russo; Roberta Marra; Barbara Eleni Rosato; Achille Iolascon; Immacolata Andolfo
Journal:  Front Physiol       Date:  2020-12-22       Impact factor: 4.566
  3 in total

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