ライフサイエンスコーパス: Seckel syndrome

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1 ructural and regulatory proteins--also cause Seckel syndrome.

2 lead to the neurodevelopmental disorder, ATR-Seckel syndrome.

3 n mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder.

4 Mutations in CEP63 cause Seckel syndrome, a human disease characterized by microc

5 elangiectasia mutated and Rad3 related (ATR)-Seckel syndrome and autosomal recessive primary microcep

6 ders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial

7 NT) gene were identified in individuals with Seckel syndrome and microcephalic osteodysplastic primor

8 3 related (ATR)-Chk1 pathway is defective in Seckel syndrome, another microcephaly disorder.

9 phosphorylation was investigated by using a Seckel syndrome (ATR mutant) cell line.

10 A damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by se

11 taxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwa

12 All the Seckel syndrome cell lines examined showed increased end

13 tes is a common but not invariant feature of Seckel syndrome cell lines.

14 However, like ATR-Seckel syndrome cells, MCPH1-mutant cell lines show defe

15 In contrast with ATR-Seckel syndrome cells, MCPH1-mutant cells have low level

16 ve been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical

17 more, we find that cells of individuals with Seckel syndrome due to mutations in PCNT (PCNT-Seckel) h

18 Seckel syndrome is clinically and genetically heterogene

19 r defects in ATR significantly contribute to Seckel syndrome is unclear.

20 ct identified in the developmental disorder, Seckel syndrome, is a mutation in ataxia telangiectasia

21 xtreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordia

22 Seckel syndrome (MIM 210600) is an autosomal recessive d

23 Seckel syndrome (MIM 210600), a disorder of markedly red

24 ad3-related protein) syndrome, a subclass of Seckel syndrome mutated in ATR.

25 nts with defective ATR signalling, including Seckel syndrome, Nijmegen breakage syndrome and MCPH-1-d

26 Seckel syndrome (OMIM 210600) is an autosomal recessive

27 trate that Cep63-deficient mice recapitulate Seckel syndrome pathology.

28 signaling pathway that is also disrupted in Seckel syndrome patients.

29 cell lines derived from additional unrelated Seckel syndrome patients.

30 We conclude that Seckel syndrome represents a further damage response dis

31 Seckel syndrome (SCKL) is a rare, genetically heterogene

32 centrosomal protein whose gene is mutated in Seckel syndrome (SCKL, MIM 210600), an inherited recessi

33 Clinically, Seckel syndrome shares features in common with disorders

34 ich is mutated in the microcephalic disorder Seckel syndrome, sustains cerebellar growth by maintaini

35 We previously mapped a locus associated with Seckel syndrome to chromosome 3q22.1-q24 in two consangu

36 Deficiency of ATR function, either in Seckel syndrome, which clinically resembles Fanconi anem

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