De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome (Q63379340)

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29 April 2019

scholarly article

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inferred from PubMed Central ID database lookup

title

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome (English)

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29 April 2019

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GOA release 2020-03-11

hematopoietic stem cell differentiation

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GOA release 2020-03-11

37

Koji Eto

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29 April 2019

author name string

Tsutomu Toki

1

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29 April 2019

Kenichi Yoshida

2

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29 April 2019

RuNan Wang

3

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29 April 2019

Sou Nakamura

4

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29 April 2019

Takanobu Maekawa

5

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29 April 2019

Kumiko Goi

6

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Megumi C Katoh

7

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29 April 2019

Seiya Mizuno

8

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29 April 2019

Fumihiro Sugiyama

9

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29 April 2019

Rika Kanezaki

10

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29 April 2019

Tamayo Uechi

11

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Yukari Nakajima

12

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Yusuke Sato

13

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Yusuke Okuno

14

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Aiko Sato-Otsubo

15

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29 April 2019

Yusuke Shiozawa

16

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29 April 2019

Keisuke Kataoka

17

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29 April 2019

Yuichi Shiraishi

18

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Masashi Sanada

19

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29 April 2019

Kenichi Chiba

20

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Hiroko Tanaka

21

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29 April 2019

Kiminori Terui

22

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Tomohiko Sato

23

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29 April 2019

Takuya Kamio

24

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29 April 2019

Hirotoshi Sakaguchi

25

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29 April 2019

Shouichi Ohga

26

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29 April 2019

Madoka Kuramitsu

27

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Isao Hamaguchi

28

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Akira Ohara

29

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29 April 2019

Hitoshi Kanno

30

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29 April 2019

Satoru Miyano

31

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29 April 2019

Seiji Kojima

32

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29 April 2019

Akira Ishiguro

33

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29 April 2019

Kanji Sugita

34

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29 April 2019

Naoya Kenmochi

35

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29 April 2019

Satoru Takahashi

36

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29 April 2019

Seishi Ogawa

38

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29 April 2019

Etsuro Ito

39

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29 April 2019

publication date

23 August 2018

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American Journal of Human Genetics

29 April 2019

published in

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volume

103

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29 April 2019

issue

3

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page(s)

440-447

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Functional analysis of the roles of posttranslational modifications at the p53 C terminus in regulating p53 stability and activity

29 April 2019

cites work

1 reference

12 December 2020

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

12 December 2020

Repression of p53 activity by Smyd2-mediated methylation

1 reference

12 December 2020

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

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12 December 2020

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

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12 December 2020

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12 December 2020

Ribosomopathies: human disorders of ribosome dysfunction

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12 December 2020

Do ribosomopathies explain some cases of common variable immunodeficiency?

1 reference

12 December 2020

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

1 reference

12 December 2020

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.

1 reference

12 December 2020

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

1 reference

12 December 2020

ACTN1 mutations cause congenital macrothrombocytopenia

1 reference

12 December 2020

Mutant mice lacking the p53 C-terminal domain model telomere syndromes.

1 reference

12 December 2020

The C terminus of p53 regulates gene expression by multiple mechanisms in a target- and tissue-specific manner in vivo

1 reference

12 December 2020

Mutational landscape and significance across 12 major cancer types

1 reference

12 December 2020

Multicolor staining of globin subtypes reveals impaired globin switching during erythropoiesis in human pluripotent stem cells

1 reference

12 December 2020

Bone marrow failure and the telomeropathies

1 reference

12 December 2020

Mechanism and regulation of the nonsense-mediated decay pathway

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12 December 2020

CANCER. The cancer predisposition revolution

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12 December 2020

TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.

1 reference

12 December 2020

Acetylation-regulated interaction between p53 and SET reveals a widespread regulatory mode

1 reference

12 December 2020

The Tail That Wags the Dog: How the Disordered C-Terminal Domain Controls the Transcriptional Activities of the p53 Tumor-Suppressor Protein.

1 reference

12 December 2020

10.1016/J.AJHG.2018.07.020

Identifiers

DOI

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29 April 2019

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29 April 2019

PubMed publication ID

30146126

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