ライフサイエンスコーパス: Rothmund-Thomson syndrome

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1 nd/or shortened lifespan (Werner, Bloom, and Rothmund-Thomson syndromes).

2 human RecQL4 cause a rare genetic disorder, Rothmund-Thomson syndrome.

3 log (xRTS) of the RECQL4 helicase mutated in Rothmund-Thomson syndrome.

4 aging: Werner syndrome, Bloom syndrome, and Rothmund-Thomson syndrome.

5 osum, Cockayne syndrome, Bloom syndrome, and Rothmund-Thomson syndrome.

6 s, have been linked to the progeroid disease Rothmund-Thomson Syndrome.

7 ition diseases, causing Bloom's, Werner, and Rothmund-Thomson syndromes.

8 trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum.

9 elicase diseases, such as Werner, Bloom, and Rothmund-Thomson syndromes, are also related to replicat

10 uld rescue UV sensitivity of RecQ4-deficient Rothmund-Thomson syndrome cells.

11 ncluding Werner Syndrome, Bloom Syndrome and Rothmund-Thomson Syndrome, exhibit genomic instability w

12 The Rothmund-Thomson syndrome (growth retardation, skin and

13 the pathogenesis of a subset of cancer-prone Rothmund-Thomson syndrome, is highly elevated in metasta

14 RECQL4, deficient in Rothmund-Thomson Syndrome, promotes the two major DSB re

15 d RECQL4 are mutated in Bloom's, Werner, and Rothmund Thomson syndromes, respectively.

16 sorders (Bloom syndrome, Werner syndrome and Rothmund-Thomson syndrome, respectively) that display in

17 genes are defective in Bloom's, Werner's and Rothmund-Thomson syndromes, respectively.

18 Patients with Rothmund-Thomson syndrome (RTS) and RECQL4 gene mutation

19 Rothmund-Thomson syndrome (RTS) is a rare autosomal rece

20 Rothmund-Thomson syndrome (RTS) is an autosomal recessiv

21 chinson-Gilford progeria syndrome (HGPS) and Rothmund-Thomson syndrome (RTS) patients compared with n

22 ave been identified in patients with Type II Rothmund-Thomson syndrome (RTS) with osteosarcoma predis

23 approximately two-thirds of individuals with Rothmund-Thomson syndrome (RTS), a disease characterized

24 Mutations in RECQ4 lead to Rothmund-Thomson syndrome (RTS), and mouse models reveal

25 instability disorders, Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), and Werner syndrome (WS

26 n about RECQL4, the RecQ helicase mutated in Rothmund-Thomson syndrome (RTS).

27 ree of six families previously classified as Rothmund-Thomson syndrome (RTS-a poikiloderma that is so

28 the determinants of human Bloom, Werner, and Rothmund-Thomson syndromes, the shortened lifespan of to

29 mal recessive cancer-predisposition disorder Rothmund-Thomson syndrome, though it is unclear how thes

30 Type II Rothmund-Thomson syndrome (Type II RTS) is a rare autoso

31 the RECQL4 helicase gene have been linked to Rothmund-Thomson syndrome, which is characterized by gen

32 have been linked to three diseases including Rothmund-Thomson syndrome, which is characterized by ost

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