Literature DB >> 24628296

A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies.

Rafael Marquez1, Andrew Hantel, Rachelle Lorenz, Barbara Neistadt, Jerry Wong, Jane E Churpek, Nameer Al Mardini, Ismael Shaukat, Sandeep Gurbuxani, Jonathan L Miller, Lucy A Godley.   

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Year:  2014        PMID： 24628296      PMCID： PMC4206674          DOI： 10.3109/10428194.2014.903476

Source DB:  PubMed          Journal:  Leuk Lymphoma        ISSN： 1026-8022


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  7 in total

1.  A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

Authors:  F Punzo; E J Mientjes; C F Rohe; S Scianguetta; G Amendola; B A Oostra; A M Bertoli-Avella; S Perrotta
Journal:  J Thromb Haemost       Date:  2010-09       Impact factor: 5.824

2.  A missense mutation in ANKRD26 segregates with thrombocytopenia.

Authors:  Saad A Al Daama; Yousef H Housawi; Walid Dridi; Mohammed Sager; F George Otieno; Cuiping Hou; Lyam Vasquez; Cecilia Kim; Lifeng Tian; Patrick Sleiman; Hakon Hakonarson
Journal:  Blood       Date:  2013-07-18       Impact factor: 22.113

Review 3.  Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.

Authors:  Jane E Churpek; Rachelle Lorenz; Siya Nedumgottil; Kenan Onel; Olufunmilayo I Olopade; April Sorrell; Carolyn J Owen; Alison A Bertuch; Lucy A Godley
Journal:  Leuk Lymphoma       Date:  2012-07-09

4.  Recognizing familial myeloid leukemia in adults.

Authors:  Eric M Nickels; Jesse Soodalter; Jane E Churpek; Lucy A Godley
Journal:  Ther Adv Hematol       Date:  2013-08

5.  Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Authors:  Tommaso Pippucci; Anna Savoia; Silverio Perrotta; Núria Pujol-Moix; Patrizia Noris; Giovanni Castegnaro; Alessandro Pecci; Chiara Gnan; Francesca Punzo; Caterina Marconi; Samuele Gherardi; Giuseppe Loffredo; Daniela De Rocco; Saverio Scianguetta; Serena Barozzi; Pamela Magini; Valeria Bozzi; Luca Dezzani; Mariateresa Di Stazio; Marcella Ferraro; Giovanni Perini; Marco Seri; Carlo L Balduini
Journal:  Am J Hum Genet       Date:  2011-01-07       Impact factor: 11.025

6.  Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Authors:  Patrizia Noris; Silverio Perrotta; Marco Seri; Alessandro Pecci; Chiara Gnan; Giuseppe Loffredo; Nuria Pujol-Moix; Marco Zecca; Francesca Scognamiglio; Daniela De Rocco; Francesca Punzo; Federica Melazzini; Saverio Scianguetta; Maddalena Casale; Caterina Marconi; Tommaso Pippucci; Giovanni Amendola; Lucia D Notarangelo; Catherine Klersy; Elisa Civaschi; Carlo L Balduini; Anna Savoia
Journal:  Blood       Date:  2011-04-05       Impact factor: 22.113

7.  ANKRD26-related thrombocytopenia and myeloid malignancies.

Authors:  Patrizia Noris; Remi Favier; Marie-Christine Alessi; Amy E Geddis; Shinji Kunishima; Paula G Heller; Paola Giordano; Karen Y Niederhoffer; James B Bussel; Gian Marco Podda; Nicola Vianelli; Rogier Kersseboom; Alessandro Pecci; Chiara Gnan; Caterina Marconi; Anne Auvrignon; William Cohen; Jennifer C Yu; Akihiro Iguchi; Allison Miller Imahiyerobo; Francoise Boehlen; Dorsaf Ghalloussi; Daniela De Rocco; Pamela Magini; Elisa Civaschi; Ginevra Biino; Marco Seri; Anna Savoia; Carlo L Balduini
Journal:  Blood       Date:  2013-09-12       Impact factor: 22.113
  7 in total
  13 in total

1.  Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Authors:  Michael Y Zhang; Jane E Churpek; Siobán B Keel; Tom Walsh; Ming K Lee; Keith R Loeb; Suleyman Gulsuner; Colin C Pritchard; Marilyn Sanchez-Bonilla; Jeffrey J Delrow; Ryan S Basom; Melissa Forouhar; Boglarka Gyurkocza; Bradford S Schwartz; Barbara Neistadt; Rafael Marquez; Christopher J Mariani; Scott A Coats; Inga Hofmann; R Coleman Lindsley; David A Williams; Janis L Abkowitz; Marshall S Horwitz; Mary-Claire King; Lucy A Godley; Akiko Shimamura
Journal:  Nat Genet       Date:  2015-01-12       Impact factor: 38.330

Review 2.  Myeloid neoplasms with germline DDX41 mutation.

Authors:  Jesse J C Cheah; Christopher N Hahn; Devendra K Hiwase; Hamish S Scott; Anna L Brown
Journal:  Int J Hematol       Date:  2017-05-25       Impact factor: 2.490

3.  Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.

Authors:  Hamilton C Tsang; James B Bussel; Susan Mathew; Yen-Chun Liu; Allison A Imahiyerobo; Attilio Orazi; Julia T Geyer
Journal:  Mod Pathol       Date:  2017-01-06       Impact factor: 7.842

Review 4.  Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Authors:  Kristen E Schratz; Amy E DeZern
Journal:  Hematol Oncol Clin North Am       Date:  2020-01-06       Impact factor: 3.722

5.  ANKRD26 recruits PIDD1 to centriolar distal appendages to activate the PIDDosome following centrosome amplification.

Authors:  Lauren T Evans; Taylor Anglen; Phillip Scott; Kimberly Lukasik; Jadranka Loncarek; Andrew J Holland
Journal:  EMBO J       Date:  2020-12-22       Impact factor: 11.598

6.  ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26.

Authors:  J Perez Botero; J L Oliveira; D Chen; K K Reichard; D S Viswanatha; P L Nguyen; R K Pruthi; J Majerus; P Gada; N Gangat; A Tefferi; M M Patnaik
Journal:  Blood Cancer J       Date:  2015-05-22       Impact factor: 11.037

7.  Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.

Authors:  C-E Chong; P Venugopal; P H Stokes; Y K Lee; P J Brautigan; D T O Yeung; M Babic; G A Engler; S W Lane; M Klingler-Hoffmann; J M Matthews; R J D'Andrea; A L Brown; C N Hahn; H S Scott
Journal:  Leukemia       Date:  2017-06-23       Impact factor: 11.528

8.  Idiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia.

Authors:  Jerome Guison; Gilles Blaison; Oana Stoica; Remy Hurstel; Marie Favier; Remy Favier
Journal:  Mediterr J Hematol Infect Dis       Date:  2017-06-16       Impact factor: 2.576

Review 9.  Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.

Authors:  Renata Lyrio Rafael Baptista; Anna Cláudia Evangelista Dos Santos; Luciana Mayumi Gutiyama; Cristiana Solza; Ilana Renault Zalcberg
Journal:  Front Oncol       Date:  2017-09-12       Impact factor: 6.244

10.  Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome.

Authors:  Tariq Kewan; Ryan Noss; Lucy A Godley; Heesun J Rogers; Hetty E Carraway
Journal:  J Investig Med High Impact Case Rep       Date:  2020 Jan-Dec
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