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1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
2. 症候群をきたす免疫不全症 syndromic immunodeficiencies
3. 原発性副甲状腺機能亢進症の発症機序および病因 pathogenesis and etiology of primary hyperparathyroidism
4. 有毛細胞白血病の臨床的特徴および診断 clinical features and diagnosis of hairy cell leukemia
5. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects

English Journal

p53 promotes repair of heterochromatin DNA by regulating JMJD2b and SUV39H1 expression.

Zheng H, Chen L, Pledger WJ, Fang J, Chen J.SourceMolecular Oncology Department, H. Lee Moffitt Cancer Center, Tampa, FL, USA.
Oncogene.Oncogene.2013 Feb 4. doi: 10.1038/onc.2013.6. [Epub ahead of print]
Constitutive heterochromatin (HC) is important for maintaining chromosome stability, but also delays the repair of DNA double-strand breaks (DSBs). DSB repair in complex mammalian genomes involves a fast phase (2-6 h) in which most of the breaks are rapidly repaired, and a slow phase (up to 24 h
PMID 23376847

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Putoux A, Labalme A, André JM, Till M, Schluth-Bolard C, Berard J, Bertrand Y, Edery P, Putet G, Sanlaville D.SourceHospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France; CRNL, CNRS UMR 5292, INSERM U1028, Université Claude Bernard Lyon 1, Lyon, France.
American journal of medical genetics. Part A.Am J Med Genet A.2013 Feb;161(2):331-7. doi: 10.1002/ajmg.a.35708. Epub 2013 Jan 15.
We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith-Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deleti
PMID 23322614

Characterization of H3K9me3- and H4K20me3-associated circulating nucleosomal DNA by high-throughput sequencing in colorectal cancer.

Gezer U, Ustek D, Yörüker EE, Cakiris A, Abaci N, Leszinski G, Dalay N, Holdenrieder S.SourceDepartment of Basic Oncology, Istanbul University Oncology Institute, Capa, 34390, Istanbul, Turkey, ugurd@istanbul.edu.tr.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine.Tumour Biol.2013 Feb;34(1):329-36. doi: 10.1007/s13277-012-0554-5. Epub 2012 Oct 20.
Modified histone tails in nucleosomes circulating in the blood bear the potential as cancer biomarkers. Recently, using chromatin immunopecipitation (ChIP)-related quantitative PCR, we described reduced plasma levels of the two pericentric heterochromatin-specific histone methylation marks H3K9me3 a
PMID 23086575

Chromosomal Studies of Two Species of the Genus Gegeneophis (Amphibia: Gymnophiona: Indotyphlidae)

GOVINDAPPA Venu,BHATTA Gopalakrishna,VENKATACHALAIAH Govindaiah
Current Herpetology 31(1), 14-20, 2012
… In this case, pericentric inversions seem to predominate in karyotype reorganization. …
NAID 130002072887

Homozygosity for constitutional chromosomal rearrangements : a systematic review with reference to origin, ascertainment and phenotype

Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)

KIM Juwon,LEE Goeun,CHOI Jong Rak,KURBAN Mazen,CHRISTIANO Angela M.,LEVY Brynn,KIM Jong Hee,MA Sang-Hyuk,LEE Kyung-A
Journal of dermatological science 59(3), 204-206, 2010-09-01
NAID 10027473450