SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. (Q36018583)

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1 April 2020

title

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 (English)

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1 April 2020

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3

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1 April 2020

Koji Muroya

5

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1 April 2020

Shinsuke Shibata

35

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1 April 2020

Hideyuki Okano

36

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1 April 2020

6

Masanori Adachi

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1 April 2020

33

Atsushi Shimizu

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1 April 2020

author name string

Satoshi Narumi

1

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1 April 2020

Naoko Amano

2

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1 April 2020

Noriyuki Katsumata

4

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1 April 2020

Katsuaki Toyoshima

7

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1 April 2020

Yukichi Tanaka

8

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1 April 2020

Ryuji Fukuzawa

9

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1 April 2020

Kenichi Miyako

10

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Saori Kinjo

11

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Shouichi Ohga

12

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1 April 2020

Kenji Ihara

13

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1 April 2020

Hirosuke Inoue

14

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1 April 2020

Tadamune Kinjo

15

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1 April 2020

Toshiro Hara

16

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1 April 2020

Miyuki Kohno

17

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Shiro Yamada

18

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1 April 2020

Hironaka Urano

19

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1 April 2020

Yosuke Kitagawa

20

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1 April 2020

Koji Tsugawa

21

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1 April 2020

Asumi Higa

22

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1 April 2020

Masakazu Miyawaki

23

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Takahiro Okutani

24

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Zenro Kizaki

25

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Hiroyuki Hamada

26

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Minako Kihara

27

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Kentaro Shiga

28

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1 April 2020

Tetsuya Yamaguchi

29

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1 April 2020

Manabu Kenmochi

30

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1 April 2020

Hiroyuki Kitajima

31

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1 April 2020

Maki Fukami

32

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1 April 2020

Jun Kudoh

34

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Noriko Miyake

37

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1 April 2020

Naomichi Matsumoto

38

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1 April 2020

Tomonobu Hasegawa

39

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language of work or name

English

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publication date

16 May 2016

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1 April 2020

volume

48

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1 April 2020

page(s)

792-797

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1 April 2020

issue

7

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https://scigraph.springernature.com/pub.10.1038/ng.3569

1 April 2020

exact match

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cites work

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

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Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

21 January 2018

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

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Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

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Mutant WD-repeat protein in triple-A syndrome

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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

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Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association.

21 January 2018

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A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

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Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein

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Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7

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12 December 2020

New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients

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12 December 2020

Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism.

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12 December 2020

Sterile alpha motif containing domain 9 is involved in death signaling of malignant glioma treated with inactivated Sendai virus particle (HVJ-E) or type I interferon

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12 December 2020

Radiological evolution in IMAGe association: a case report

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12 December 2020

Identifiers

DOI

10.1038/NG.3569

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1 April 2020

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