Cardiomyopathy

To determine the prevalence, characteristics of hypertrophic cardiomyopathy and cardiac function in fetuses of diabetic mothers. To survey on some factors of mother and fetus related to fetal hypertrophic cardiomyopathy.

27p cothumenhmong6 17-07-2020 13 1   Download

Emerin is a ubiquitously expressed inner nuclear membrane protein of unknown function. Mutations in its gene give rise to X-linked Emery–Drei-fuss muscular dystrophy (X-EDMD), a neuromuscular condition with an associated life-threatening cardiomyopathy. We have previously reported that emerin is phosphorylated in a cell cycle-dependent manner in human lymphoblastoid cell lines [Ellis et al. (1998) Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the EDMD phenotype.J. Cell Sci. 111, 781–792]. ...

14p research12 29-04-2013 41 4   Download

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common hereditary cardiac conditions. Both are frequent causes of sudden death and are often associated with an adverse disease course.Alpha-cardiac actinis one of the disease genes where different mis-sense mutations have been found to cause either HCM or DCM. We have tested the hypothesis that the protein-folding pathway plays a role in dis-ease development for two actin variants associated with DCM and six asso-ciated with HCM....

13p awards 06-04-2013 45 3   Download

Mutations in the proteina-tropomyosin (Tm) can cause a disease known as familial hypertrophic cardiomyopathy. In order to understand how such mutations lead to protein dysfunction, three point mutations were introduced into cDNA encoding the human skeletal tropomyosin, and the recombinant Tms were produced at high levels in the yeast Pichia pastoris. Two mutations (A63V and K70T) were located in theN-terminal regionofTmandone (E180G)was located close to the calcium-dependent troponin T binding domain....

9p awards 05-04-2013 50 3   Download

A small deletion in the second intron of humanNDUFV2 (IVS2+5_+8delGTAA) has been shown to cause hyper-trophic cardiomyopathy and encephalomyopathy [Be´nit, P., Beugnot, R., Chretien, D., Giurgea, I., de Lonlay-Debeney, P., Issartel, J.P., Kerscher, S., Rustin, P., Ro¨tig, A. & Munnich, A. (2003)Human Mutat.21, 582–586]. Skipping of exon 2 results in a partial deletion of the mitochondrial targeting sequence of the precursor for the 24 kDa subunit of respiratory chain complex I.

8p dell39 03-04-2013 45 4   Download

We investigated structural and functional aspects of the first mutation in TNNC1, coding for the calcium-binding subunit (cTnC) of cardiac tropo-nin, which was detected in a patient with hypertrophic cardiomyopathy [Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ & Gessner R (2001) Hum Mut17, 524]. This mutation leads to a leucine–glutamine exchange at position 29 in the nonfunctional calcium-binding site of cTnC.

11p dell39 27-03-2013 50 5   Download

Friedreich ataxia (FRDA) is a rare hereditary neurodegenerative disease characterized by progressive ataxia and cardiomyopathy. The cause of the disease is a defect in mitochondrial frataxin, an iron chaperone involved in the maturation of Fe–S cluster proteins.

12p vinaphone15 27-02-2013 31 2   Download

Cytochrome P450 2E1 (CYP2E1) is an effective generator of reactive oxy-gen species. Marked expression of CYP2E1 occurs in the heart and it is known to be regulated in the course of progression of myocardial ischemia and cardiomyopathy.

9p cosis54 05-01-2013 39 2   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A novel totivirus and piscine reovirus (PRV) in Atlantic salmon (Salmo salar) with cardiomyopathy syndrome (CMS)

7p dauphong2 23-12-2011 40 4   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A variant form of acute reversible cardiomyopathy: a case report

3p dauphong1 22-12-2011 40 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Takotsubo cardiomyopathy in a patient with esophageal cancer: a case report

3p thulanh30 20-12-2011 65 7   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Late presentation of arrhythmogenic right ventricular cardiomyopathy: a case report

4p thulanh30 19-12-2011 52 4   Download

Bromocriptine treatment associated with recovery from peripartum cardiomyopathy in siblings: two case reports

4p thulanh28 15-12-2011 41 2   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report

4p thulanh27 14-12-2011 49 5   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

5p panasonic01 12-12-2011 58 4   Download

Tham khảo luận văn - đề án 'báo cáo y học: " tako-tsubo cardiomyopathy after administration of ergometrine following elective caesarean delivery: a case report"', luận văn - báo cáo phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

4p thulanh27 12-12-2011 73 6   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Tako-tsubo cardiomyopathy after administration of ergometrine following elective caesarean delivery: a case report...

4p thulanh26 09-12-2011 48 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Emotional stress as a trigger of myasthenic crisis and concomitant takotsubo cardiomyopathy: a case report

4p toshiba25 09-12-2011 48 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Unusual association of ST-T abnormalities, myocarditis and cardiomyopathy with H1N1 influenza in pregnancy: two case reports and review of the literature...

5p thulanh25 07-12-2011 44 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Takotsubo cardiomyopathy after a dancing session: a case report

5p toshiba24 07-12-2011 82 6   Download