Literature DB >> 21475223

Mutations to the rescue.

Mike May.   

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Year:  2011        PMID： 21475223     DOI： 10.1038/nm0411-405

Source DB:  PubMed          Journal:  Nat Med        ISSN： 1078-8956            Impact factor:   53.440


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  10 in total

1.  Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.

Authors:  J R Lo Ten Foe; M L Kwee; M A Rooimans; A B Oostra; A J Veerman; M van Weel; R M Pauli; N T Shahidi; I Dokal; I Roberts; C Altay; E Gluckman; R A Gibson; C G Mathew; F Arwert; H Joenje
Journal:  Eur J Hum Genet       Date:  1997 May-Jun       Impact factor: 4.246

2.  Revertant mosaicism--patchwork in the skin.

Authors:  Marcel F Jonkman; Anna M G Pasmooij
Journal:  N Engl J Med       Date:  2009-04-16       Impact factor: 91.245

3.  Natural gene therapy in monozygotic twins with Fanconi anemia.

Authors:  Anuj Mankad; Toshiyasu Taniguchi; Barbara Cox; Yassmine Akkari; R Keaney Rathbun; Lora Lucas; Grover Bagby; Susan Olson; Alan D'Andrea; Markus Grompe
Journal:  Blood       Date:  2006-01-05       Impact factor: 22.113

4.  Reprogramming Rx.

Authors:  Monya Baker
Journal:  Nat Med       Date:  2011-03       Impact factor: 53.440

5.  Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.

Authors:  Yumi Tone; Taizo Wada; Fumie Shibata; Tomoko Toma; Yoko Hashida; Yoshihito Kasahara; Shoichi Koizumi; Akihiro Yachie
Journal:  Blood       Date:  2007-02-01       Impact factor: 22.113

6.  Stem-cell gene therapy for the Wiskott-Aldrich syndrome.

Authors:  Kaan Boztug; Manfred Schmidt; Adrian Schwarzer; Pinaki P Banerjee; Inés Avedillo Díez; Ricardo A Dewey; Marie Böhm; Ali Nowrouzi; Claudia R Ball; Hanno Glimm; Sonja Naundorf; Klaus Kühlcke; Rainer Blasczyk; Irina Kondratenko; László Maródi; Jordan S Orange; Christof von Kalle; Christoph Klein
Journal:  N Engl J Med       Date:  2010-11-11       Impact factor: 91.245

7.  Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Journal:  Science       Date:  2010-08-26       Impact factor: 47.728

8.  Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants.

Authors:  Brian R Davis; Qing Yan; Jacquelin H Bui; Kumar Felix; Daniele Moratto; Linda M Muul; Nicole L Prokopishyn; R Michael Blaese; Fabio Candotti
Journal:  Clin Immunol       Date:  2010-02-02       Impact factor: 3.969

9.  Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.

Authors:  Brian R Davis; Michael J Dicola; Nicole L Prokopishyn; Jonathan B Rosenberg; Daniele Moratto; Linda M Muul; Fabio Candotti; R Michael Blaese
Journal:  Blood       Date:  2008-03-10       Impact factor: 22.113

10.  Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.

Authors:  Taizo Wada; Masahiro Yasui; Tomoko Toma; Yuko Nakayama; Mika Nishida; Masaki Shimizu; Michiko Okajima; Yoshihito Kasahara; Shoichi Koizumi; Masami Inoue; Keisei Kawa; Akihiro Yachie
Journal:  Blood       Date:  2008-06-16       Impact factor: 22.113
  10 in total
  9 in total

1.  Companies ponder how truly 'personal' medicines can get.

Authors:  Monya Baker
Journal:  Nat Med       Date:  2011-05       Impact factor: 53.440

2.  Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Authors:  Shefali Parikh; Nieves Perdigones; Michelle Paessler; Barbara Greenbaum; Laura S Tooke; Jaclyn A Biegel; Philip J Mason; Monica Bessler
Journal:  Br J Haematol       Date:  2012-08-31       Impact factor: 6.998

3.  Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Authors:  Dimitra Kiritsi; Yinghong He; Anna M G Pasmooij; Meltem Onder; Rudolf Happle; Marcel F Jonkman; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Clin Invest       Date:  2012-04-02       Impact factor: 14.808

4.  Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Authors:  Jaya Punetha; Simin Mansoor; Tulio E Bertorini; Akanchha Kesari; Kristy J Brown; Eric P Hoffman
Journal:  Eur J Hum Genet       Date:  2016-03-09       Impact factor: 4.246

Review 5.  Somatic genetic rescue in Mendelian haematopoietic diseases.

Authors:  Patrick Revy; Caroline Kannengiesser; Alain Fischer
Journal:  Nat Rev Genet       Date:  2019-06-11       Impact factor: 53.242

6.  Genomic variations of the mevalonate pathway in porokeratosis.

Authors:  Zhenghua Zhang; Caihua Li; Fei Wu; Ruixiao Ma; Jing Luan; Feng Yang; Weida Liu; Li Wang; Shoumin Zhang; Yan Liu; Jun Gu; Wenlian Hua; Min Fan; Hua Peng; Xuemei Meng; Ningjing Song; Xinling Bi; Chaoying Gu; Zhen Zhang; Qiong Huang; Lianjun Chen; Leihong Xiang; Jinhua Xu; Zhizhong Zheng; Zhengwen Jiang
Journal:  Elife       Date:  2015-07-23       Impact factor: 8.140

Review 7.  AlphaFold, Artificial Intelligence (AI), and Allostery.

Authors:  Ruth Nussinov; Mingzhen Zhang; Yonglan Liu; Hyunbum Jang
Journal:  J Phys Chem B       Date:  2022-08-17       Impact factor: 3.466

8.  Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.

Authors:  Vassiliki Kotoula; Kyriaki Papadopoulou; Ioannis Tikas; Florentia Fostira; Eleni Vrettou; Sofia Chrisafi; Elena Fountzilas; Georgia-Angeliki Koliou; Paraskevi Apostolou; Konstantinos Papazisis; Thomas Zaramboukas; Anthoula Asimaki-Vlachopoulou; Spyros Miliaras; Ananias Ananiadis; Christos Poulios; Ioannis Natsiopoulos; Aris Tsiftsoglou; Efterpi Demiri; George Fountzilas
Journal:  Breast Cancer       Date:  2021-07-24       Impact factor: 4.239

Review 9.  PI3K inhibitors: review and new strategies.

Authors:  Mingzhen Zhang; Hyunbum Jang; Ruth Nussinov
Journal:  Chem Sci       Date:  2020-05-19       Impact factor: 9.825
  9 in total

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