scholarly journals Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations

2002 ◽  
Vol 47 (9) ◽  
pp. 484-487 ◽  
Author(s):  
A. Tanaka ◽  
M. Kimura ◽  
H. T. N. Lan ◽  
N. Takaura ◽  
T. Yamano
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Type B ◽  
Novel Mutations

scholarly journals Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

2001 ◽  
Vol 18 (3) ◽  
pp. 253-253 ◽  
Author(s):  
Yasukazu Yamada ◽  
Kiyokuni Miura ◽  
Toshiyuki Kumagai ◽  
Chiemi Hayakawa ◽  
Shuji Miyazaki ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Molecular Analysis ◽  
Japanese Patients ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Genotype Phenotype Correlation

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

1997 ◽  
Vol 100 (5-6) ◽  
pp. 637-642 ◽  
Author(s):  
Hiroyuki Ikeda ◽  
Y. Matsubara ◽  
Hitoshi Mikami ◽  
Shigeo Kure ◽  
Misao Owada ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Dihydropteridine Reductase ◽  
Novel Mutations ◽  
Reductase Deficiency

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks

2009 ◽  
Vol 380 (3) ◽  
pp. 548-553 ◽  
Author(s):  
Naoyuki Sato ◽  
Tomohiro Nakayama ◽  
Yoshihiro Mizutani ◽  
Mitsuko Yuzawa
Keyword(s):  
Japanese Patients ◽  
Angioid Streaks ◽  
Novel Mutations ◽  
Abcc6 Gene

Molecular analysis of type II 3 -hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 -hydroxysteroid dehydrogenase deficiency

1995 ◽  
Vol 4 (5) ◽  
pp. 969-971 ◽  
Author(s):  
T. Tajima ◽  
K. Fujieda ◽  
J. Nakae ◽  
N. Shinohara ◽  
M. Yoshimoto ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Dehydrogenase Deficiency ◽  
Japanese Patients ◽  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Dehydrogenase Gene

scholarly journals Clinical Features of Type B Insulin Resistance in Japanese Patients: Case Report and Survey-Based Case Series Study

2020 ◽  
Vol 2020 ◽  
pp. 1-11 ◽  
Author(s):  
Yusuke Hirota ◽  
Hirotsugu Suwanai ◽  
Toshimasa Yamauchi ◽  
Takashi Kadowaki
Keyword(s):  
Insulin Resistance ◽  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Cold Treatment ◽  
Case Series ◽  
Japanese Patients ◽  
Type B ◽  
Case Series Study ◽  
Series Study

Type B insulin resistance (TBIR) is an extremely rare disease characterized by marked hyperglycemia and insulin resistance and often coexists with autoimmune diseases. The characteristics, symptoms, blood glucose patterns, comorbidities, and treatments of TBIR all vary and are not defined. In this study, we described a case of TBIR that developed 6 months after DPP-4 inhibitor administration and immediately after the patient caught a cold. Treatment using prednisolone and insulin-like growth factor-1 was effective. We also conducted an observational survey-based case series study in a Japanese cohort comprising 21 cases. The average age of onset of TBIR was 62.3±14.8 (17–84) years, and 61.9% of subjects were male. The majority of patients (90.4%) were 50 years old and over. During the study period, there was a high percentage (85.7%) of episodes of hypoglycemia, which was the trigger for diagnosis in more than 50% of cases. Glycemic patterns included 7 cases of hyperglycemia (33.3%), 10 cases of hypoglycemia (47.6%), and 4 cases of both hyperglycemia and hypoglycemia (19.1%). In the hypoglycemic group, 90.0% of patients were male. Furthermore, 71.4% of cases were antinuclear antibody positive, and 81.0% of cases were complicated with autoimmune disease. Systemic lupus erythematosus (38.1%) and Sjögren’s syndrome (23.8%) were relatively common as coexisting autoimmune diseases. Treatment was based on prednisolone use, which was used in 88.9% of patients. On the other hand, the effect of IGF-1 was limited. Overall, the prognosis of TBIR was good.

scholarly journals Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies

2017 ◽  
Vol 9 (4) ◽  
pp. 317-331
Author(s):  
Faisal A. Al-Allaf ◽  
Mohiuddin M. Taher ◽  
Zainularifeen Abduljaleel ◽  
Abdellatif Bouazzaoui ◽  
Mohammed Athar ◽  
...  
Keyword(s):  
Molecular Dynamics ◽  
Factor Viii ◽  
Molecular Analysis ◽  
Factor Ix ◽  
Novel Mutations

scholarly journals Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein

2019 ◽  
Vol 5 (3) ◽  
pp. e328 ◽  
Author(s):  
Yuka Urata ◽  
Masayuki Nakamura ◽  
Natsuki Sasaki ◽  
Nari Shiokawa ◽  
Yoshiaki Nishida ◽  
...  
Keyword(s):  
Membrane Proteins ◽  
Erythrocyte Membrane ◽  
Molecular Analysis ◽  
Cultured Cells ◽  
Immunoblot Analysis ◽  
Erythrocyte Membranes ◽  
Onset Age ◽  
Novel Mutations ◽  
Erythrocyte Membrane Proteins ◽  
Normal Controls

ObjectiveTo identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein.MethodsErythrocyte membrane proteins from patients with suspected MLS and patients with ChAc, ChAc mutant carriers, and normal controls were analyzed by XK and chorein immunoblotting. We performed mutation analysis and XK immunoblotting to molecularly diagnose the patients with suspected MLS. Lysates of cultured cells were co-immunoprecipitated with anti-XK and anti-chorein antibodies.ResultsAll suspected MLS cases were molecularly diagnosed with MLS, and novel mutations were identified. The average onset age was 46.8 ± 8 years, which was older than that of the patients with ChAc. The immunoblot analysis revealed remarkably reduced chorein immunoreactivity in all patients with MLS. The immunoprecipitation analysis indicated a direct or indirect chorein-XK interaction.ConclusionsIn this study, XK pathogenic mutations were identified in all 6 MLS cases, including novel mutations. Chorein immunoreactions were significantly reduced in MLS erythrocyte membranes. In addition, we demonstrated a possible interaction between the chorein and XK protein via molecular analysis. The reduction in chorein expression is similar to that between Kell antigens and XK protein, although the chorein-XK interaction is a possibly noncovalent binding unlike the covalent Kell-XK complex. Our results suggest that reduced chorein levels following lack of XK protein are possibly associated with molecular pathogenesis in MLS.

GM1 gangliosidosis in adults: Clinical and molecular analysis of 16 Japanese patients

1992 ◽  
Vol 31 (3) ◽  
pp. 328-332 ◽  
Author(s):  
Kunihiro Yoshida ◽  
Akihiro Oshima ◽  
Hitoshi Sakuraba ◽  
Takeshi Nakano ◽  
Nobuo Yanagisawa ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Gm1 Gangliosidosis

Two novel mutations ofPTEN gene in Japanese patients with Cowden syndrome

2004 ◽  
Vol 128A (1) ◽  
pp. 12-14 ◽  
Author(s):  
Takeshi Sawada ◽  
Toshihide Okada ◽  
Kazuhiro Miwa ◽  
Hiro Satoh ◽  
Akimichi Asano ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Cowden Syndrome ◽  
Novel Mutations
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