Mamiko Yamada 研究室

主宰者：Mamiko Yamada

慶應義塾大学・Keio University Hospital

AI 要約（直近 5 年の研究成果）

Yamada研究室は、遺伝子変異が引き起こす様々な疾患の解明と診断方法の開発に取り組んでいます。特に、遺伝性乳がん卵巣がん症候群（HBOC）や神経発達障害、稀な遺伝性疾患など、遺伝子異常に基づく疾患を対象としており、患者由来の生体試料や計算解析を用いてその発症メカニズムを調査しています。DNA配列解析技術の活用により、従来の検査では見落とされていた変異も検出する方法の構築を進めています。研究の手法としては、全エクソーム解析や長鎖読取塩基配列決定などの遺伝子解析技術に加え、患者由来の細胞を用いた機能解析、そして動物モデル（ショウジョウバエやゼブラフィッシュ）を活用した生物学的検証を組み合わせています。特にゲノムのエピジェネティック修飾を操作する技術により、遺伝子発現を制御し、疾患の治療標的を探索する研究も展開しています。これらの研究を通じて、遺伝子変異と表現型の関連性を明らかにし、希少疾患の早期発見と治療法開発につなげることを目指しています。また、多科連携による診療体制の構築にも貢献し、複雑な遺伝性疾患を抱える患者への臨床応用を促進しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

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研究成果（64 件）

[2025] Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomy
DOI: https://doi.org/10.2302/kjm.2024-0024-re
[2025] Pulmonary arteriovenous fistula visualized during comprehensive ultrasound evaluation: striking microbubble findings
DOI: https://doi.org/10.1007/s10396-025-01601-9
[2025] Prognostic Determinants in Patients with Secondary Tricuspid Regurgitation Classified by Right Ventricular Systolic Function
DOI: https://doi.org/10.1159/000549540
[2025] Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome
DOI: https://doi.org/10.1038/s41467-025-64932-8
[2025] Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report
DOI: https://doi.org/10.1016/j.pedneo.2025.11.005
[2025] Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer
DOI: https://doi.org/10.1111/cga.70019
[2025] Vagus nerve stimulation in KCNB1-related developmental and epileptic encephalopathy: A case of seizure reduction and review of literature
DOI: https://doi.org/10.1016/j.ebr.2025.100826
[2025] ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape
DOI: https://doi.org/10.1016/j.ejmg.2025.105048
[2025] Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond
DOI: https://doi.org/10.1038/s10038-025-01403-4
[2025] The Keio HBOC Center: A Model of Hereditary Breast and Ovarian Cancer Management
DOI: https://doi.org/10.2302/kjm.2025-0004-oa

続きを表示（残り 54 件）

[2025] Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant
DOI: https://doi.org/10.1016/j.ejmg.2025.105039
[2025] Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review
DOI: https://doi.org/10.1038/s41439-025-00315-1
[2025] RHOA-associated disorder can be non-mosaic
DOI: https://doi.org/10.1016/j.ejmg.2025.105019
[2025] A serial evaluation of endovascular treatment for pulmonary vein stenosis following pulmonary vein isolation using exercise stress echocardiography
DOI: https://doi.org/10.1007/s12928-025-01125-6
[2025] Establishment and characterization of <scp>adap1</scp>‐deficient zebrafish
DOI: https://doi.org/10.1111/dgd.70004
[2025] Exploring Breast Cancer Risk Management in HBOC Patients: Image Surveillance Versus Risk-reducing Surgery
DOI: https://doi.org/10.2302/kjm.2024-0021-re
[2025] Pancreatic Cancer in Hereditary Breast and Ovarian Cancer Syndrome: Is Early Detection Possible?
DOI: https://doi.org/10.2302/kjm.2024-0018-oa
[2025] Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With <scp>SATB2</scp>‐Associated Syndrome
DOI: https://doi.org/10.1002/ajmg.a.64005
[2025] Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC)
DOI: https://doi.org/10.2302/kjm.2024-0023-re
[2024] Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
DOI: https://doi.org/10.1002/ajmg.a.63614
[2024] Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7
DOI: https://doi.org/10.3389/fendo.2024.1431547
[2024] De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model
DOI: https://doi.org/10.1016/j.ejmg.2024.104983
[2024] A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever
DOI: https://doi.org/10.3389/fimmu.2024.1475179
[2024] Wieacker–Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report
DOI: https://doi.org/10.1297/cpe.2024-0056
[2024] The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
DOI: https://doi.org/10.1186/s12890-024-03290-5
[2024] Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report
DOI: https://doi.org/10.1007/s13730-024-00935-6
[2024] Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
DOI: https://doi.org/10.1038/s41598-024-70831-7
[2024] Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype
DOI: https://doi.org/10.1016/j.ejmg.2024.104955
[2024] Digital clubbing without hypoxia for lysinuric protein intolerance
DOI: https://doi.org/10.1016/j.ejmg.2024.104967
[2024] Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
DOI: https://doi.org/10.1016/j.jacig.2024.100312
[2024] Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
DOI: https://doi.org/10.1038/s41598-024-56704-z
[2024] Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
DOI: https://doi.org/10.1002/ajmg.a.63575
[2024] SALL4 deletion and kidney and cardiac defects associated with VACTERL association
DOI: https://doi.org/10.1007/s00467-024-06306-8
[2024] A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome
DOI: https://doi.org/10.1297/cpe.2023-0027
[2023] PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
DOI: https://doi.org/10.1186/s12864-023-09645-2
[2023] Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
DOI: https://doi.org/10.1016/j.ejmg.2023.104804
[2023] BMP2 is a potential causative gene for isolated dextrocardia situs solitus
DOI: https://doi.org/10.1016/j.ejmg.2023.104820
[2023] Oculofaciocardiodental syndrome caused by a novel BCOR variant
DOI: https://doi.org/10.1038/s41439-023-00244-x
[2023] Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
DOI: https://doi.org/10.1186/s12883-023-03202-w
[2023] Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption
DOI: https://doi.org/10.1111/cga.12514
[2023] Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase
DOI: https://doi.org/10.3390/jcm12051728
[2023] Familial café‐au‐lait macules associated with in‐frame deletion of <scp>NF1</scp> p.Met992del mimicking Legius syndrome
DOI: https://doi.org/10.1111/cga.12506
[2023] Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function
DOI: https://doi.org/10.1093/immadv/ltad027
[2023] Café-au-lait Spots and Cleft Palate: Not a Chance Association
DOI: https://doi.org/10.1177/10556656231188205
[2022] Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
DOI: https://doi.org/10.1016/j.ejmg.2022.104690
[2022] Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
DOI: https://doi.org/10.1016/j.ejmg.2022.104623
[2022] De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
DOI: https://doi.org/10.1093/hmg/ddac166
[2022] Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross‐sectional study
DOI: https://doi.org/10.1111/cas.15316
[2022] Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations
DOI: https://doi.org/10.1016/j.jpeds.2022.01.033
[2022] Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
DOI: https://doi.org/10.1186/s12883-021-02540-x
[2022] Diagnosis of Prader-Willi Syndrome and Angelman Syndrome by Targeted Nanopore Long-Read Sequencing
DOI: https://doi.org/10.2139/ssrn.4300146
[2022] De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence
DOI: https://doi.org/10.1093/hmg/ddac136
[2022] Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
DOI: https://doi.org/10.1038/s41439-022-00196-8
[2022] Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of <scp>TLL1</scp> as a causative gene for atrial septal defect
DOI: https://doi.org/10.1002/ajmg.a.62777
[2022] Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
DOI: https://doi.org/10.1016/j.ejmg.2022.104512
[2021] Vanishing basal ganglia in <scp>ATP1A3</scp>‐related polymicrogyria
DOI: https://doi.org/10.1002/ajmg.a.62531
[2021] A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
DOI: https://doi.org/10.1007/s13730-021-00640-8
[2021] Recurrent <scp>NFIA K125E</scp> substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles
DOI: https://doi.org/10.1002/ajmg.a.62226
[2021] Establishing intellectual disability as the key feature of patients with biallelic <scp>RNPC3</scp> variants
DOI: https://doi.org/10.1002/ajmg.a.62152
[2021] Fork‐shaped mandibular incisors as a novel phenotype of <scp>LRP5</scp>‐associated disorder
DOI: https://doi.org/10.1002/ajmg.a.62132
[2021] Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
DOI: https://doi.org/10.1007/s00381-021-05232-6
[2021] Multiple introductions of SARS-CoV-2 B.1.1.214 lineages from mainland Japan preceded the third wave of the COVID-19 epidemic in Hokkaido
DOI: https://doi.org/10.1016/j.tmaid.2021.102210
[2021] Noonan syndrome‐like phenotype in a patient with heterozygous <scp>ERF</scp> truncating variant
DOI: https://doi.org/10.1111/cga.12435
[2021] A patient with compound heterozygosity of <scp>SMPD4</scp>: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders
DOI: https://doi.org/10.1002/ajmg.a.62535

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AI 要約（直近 5 年の研究成果）

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研究成果（64 件）

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