ライフサイエンスコーパス: PSACH

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1 PSACH and some forms of MED result from mutations in car

2 PSACH and some forms of MED result from mutations in the

3 PSACH is characterized by generalized epi-metaphyseal dy

4 PSACH is characterized by intracellular retention of COM

5 PSACH-MED patients often have a mild myopathy characteri

6 an MED patient carrying a (GAC)6allele and a PSACH patient carrying a (GAC)7allele.

7 n of Asp-470 (a mutation found in 22% of all PSACH and EDM1 patients) decreased the Ca(2+)-binding ca

8 tly been shown to be responsible for MED and PSACH.

9 ovide evidence of phenotypic overlap between PSACH and MED.

10 Mutations that cause PSACH and EDM1 are restricted to a 27-kDa Ca(2+) binding

11 nd two clinically related chondrodysplasias, PSACH and multiple epiphyseal dysplasia.

12 hat recapitulates the molecular and clinical PSACH phenotype, we previously reported that oxidative s

13 ough endoplasmic reticulum of differentiated PSACH and EDM1 chondrocytes.

14 th plate recapitulated the findings of human PSACH growth plate morphology, including (1) retention o

15 ion of ECM proteins recapitulating the human PSACH disease process at the cellular level.

16 We hypothesize that the myopathy in PSACH-MED originates from an underlying tendon and ligam

17 on play important and unappreciated roles in PSACH pathology.

18 tent with early onset osteoarthritis seen in PSACH patients.

19 ndon and ligament from a mouse model of mild PSACH harbouring a COMP mutation.

20 ation and analysis of a murine model of mild PSACH resulting from a p.Thr583Met mutation in the C-ter

21 In two families, one with mild PSACH and the second with a form of MED, we identified d

22 N3), also accumulate in the rER cisternae of PSACH chondrocytes, but it is unknown how mutant COMP in

23 mic reticulum (rER) cisternae, a hallmark of PSACH.

24 In contrast, the pathomolecular mechanism of PSACH resulting from C-terminal domain COMP mutations re

25 efine the underlying molecular mechanisms of PSACH has been hampered by the lack of a suitable model

26 Using a MT-COMP mouse model of PSACH that recapitulates the molecular and clinical PSAC

27 and cellular pathology in our mouse model of PSACH.

28 h the chondrocyte and long-bone pathology of PSACH in a mouse model and suggests that reducing inflam

29 rization of the musculoskeletal phenotype of PSACH-MED and is directly relevant to the clinical manag

30 About one-third of PSACH cases result from heterozygosity for deletion of o

31 Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autos

32 Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relat

33 Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are two h

34 Pseudoachondroplasia (PSACH) is one of the more common skeletal dysplasias and

35 Pseudoachondroplasia (PSACH), a severe short-limb dwarfing condition, results

36 missense mutation in a pseudoachondroplasia (PSACH) patient in one of the type III repeats of cartila

37 al dysplasia (MED) and pseudoachondroplasia (PSACH).

38 in the COMP gene cause pseudoachondroplasia (PSACH), a severe dwarfing condition that has a growth pl

39 tein gene (COMP) cause pseudoachondroplasia (PSACH).

40 o skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1).

41 o skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1).

42 Chondrocytes from pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) patients

43 entified in patients with moderate to severe PSACH.

44 lasia; however, the myopathy associated with PSACH-MED has not previously been studied.

45 mutations in an additional 14 families with PSACH or MED phenotypes.

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