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Ohsuke Migita
St. Marianna University School of Medicine
27Publications
8H-index
235Citations
Publications 27
Newest
#1Ken Takahashi (Jikei University School of Medicine)H-Index: 1
#2Ohsuke Migita (St. Marianna University School of Medicine)H-Index: 8
Last.Aikou Okamoto (Jikei University School of Medicine)H-Index: 18
view all 12 authors...
Background: To avoid hemolytic disease of the fetus and newborn resulting from maternal alloantibodies against fetal Rh antigens, anti-D immunoglobulin is routinely administered to RhD-negative pregnant women in Japan. Fetal RHD genotyping using cell-free DNA may prevent unnecessary antibody administration; however, current PCR-based methods, which detect RHD deletion, do not address the higher rates of RHD-positive D antigen-negative alleles in nonwhite populations without additional inspection...
#1Masanori Mizuno (St. Marianna University School of Medicine)H-Index: 7
#2Kentaro Aso (St. Marianna University School of Medicine)H-Index: 3
Last.Hitoshi Yamamoto (St. Marianna University School of Medicine)H-Index: 14
view all 7 authors...
Abstract We describe a female infant with incontinentia pigmenti complicated by severe pulmonary arterial hypertension that was markedly improved by tadalafil administration. The infant was referred to our institution because of neonatal seizures and generalized skin rash at the age of 1 day. She was diagnosed with incontinentia pigmenti on skin biopsy findings. In addition to incontinentia pigmenti, she had pulmonary arterial hypertension without structural heart disease. The pulmonary hyperten...
#1Taisuke Sato (Jikei University School of Medicine)H-Index: 1
#2Taisuke Sato (Jikei University School of Medicine)
Last.Kenichiro HataH-Index: 30
view all 8 authors...
Abstract We present a case with discordant results in three prenatal screening methods, with additional genetic analyses. Non-invasive prenatal testing (NIPT) was performed on a 41-year-old Japanese woman at 10 weeks of gestation, and the result was positive for trisomy 18 with high accuracy. Amniocentesis was performed at 16 weeks of gestation. However, the result showed 47,XX,+mar[16]/47,XX,+18[2]. Fetal examination by ultrasound revealed no malformations. After termination of the pregnancy, w...
#1Taisuke Sato (Jikei University School of Medicine)H-Index: 1
#2Ohsuke Migita (St. Marianna University School of Medicine)H-Index: 8
Last.Kenichiro HataH-Index: 30
view all 5 authors...
Abstract Research question The causes of almost half of all miscarriages are unknown. Genetic alterations undetectable by conventional methods may cause some cases of recurrent miscarriage. The study aimed to identify candidate genetic alterations associated with recurrent miscarriage. Design Twenty-nine Japanese women with a history of recurrent miscarriage without any known underlying anatomical or medical causes were recruited. The products of conception were collected after miscarriage and s...
#1Tsunehiko Kurokami (Tokyo Medical and Dental University)
#2Tatsuya KoedaH-Index: 19
Last.Kenichiro HataH-Index: 30
view all 4 authors...
Abstract Dyslexia is a reading disability characterized by difficulties with accurate and/or fluent word recognition, which are thought to stem from a phonological processing impairment. Herein we report the case of a 13-year-old girl who received the diagnosis of dyslexia at age 12 years. We considered this diagnosis to be incorrect because her reading difficulty was caused by a spontaneously repeated eye movement toward the vertical direction; the eyes were likely to show slow, upward drifts f...
#1Taisuke Sato (Jikei University School of Medicine)H-Index: 1
#2Osamu Samura (Jikei University School of Medicine)H-Index: 13
Last.Aikou Okamoto (Jikei University School of Medicine)H-Index: 18
view all 11 authors...
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene (TFAP2A). We performed detailed genetic analysis of a Japanese family with clinically suspected BOFS and identified a novel missense mutation resulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding domain of TFAP2A (NM_003220.2:c.699A>C).
#1Naohiro Miyashita (Hokkaido University)H-Index: 2
#2Masahiro Onozawa (Hokkaido University)H-Index: 16
Last.Daigo Hashimoto (Hokkaido University)H-Index: 25
view all 14 authors...
We identified a novel heterozygous ITGB3 p.T720del mutation in a pedigree with macrothrombocytopenia exhibiting aggregation dysfunction. Platelet aggregation induced by ADP and collagen was significantly reduced, while ristocetin aggregation was normal. Integrin αIIbβ3 was partially activated in a resting status, but platelet expression of αIIbβ3 was downregulated. Functional analysis using a cell line showed spontaneous phosphorylation of FAK in αIIb/β3 (p.T720del)-transfected 293T cells in sus...
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