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Kazuki Yamazawa

Explore the profile of Kazuki Yamazawa including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 40
Citations 687
Followers 0
Related Specialties
Genetics
Pediatrics
Endocrinology
Top 10 Co-Authors
Tsutomu Ogata
Masayo Kagami
Keiko Matsubara
Maki Fukami
Takanobu Inoue
Tomoko Fuke
Akie Nakamura
Tatsuo Matsunaga
Kazuhiko Nakabayashi
Shinichiro Sano
Published In
Clin Epigenetics
Am J Med Genet A
Hum Genome Var
J Hum Genet
J Med Genet
Affiliations
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Recent Articles
1.
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search
Mutai H, Miya F, Nara K, Yamamoto N, Inoue S, Murakami H, et al.
Hum Genet . 2025 Jan; 144(1):93-112. PMID: 39755840
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing...
2.
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Urakawa T, Soejima H, Yamoto K, Hara-Isono K, Nakamura A, Kawashima S, et al.
Clin Epigenetics . 2024 Oct; 16(1):138. PMID: 39369220
Background: Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious variants have...
3.
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
Nakashima M, Shiroshima T, Fukaya M, Sugawara T, Sakagami H, Yamazawa K
J Hum Genet . 2024 Jan; 69(3-4):119-123. PMID: 38200111
IQSEC2 gene on chromosome Xq11.22 encodes a member of guanine nucleotide exchange factor (GEF) protein that is implicated in the activation of ADP-ribosylation factors (Arfs) at the postsynaptic density (PSD),...
4.
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
Hara-Isono K, Matsubara K, Nakamura A, Sano S, Inoue T, Kawashima S, et al.
Clin Epigenetics . 2023 May; 15(1):78. PMID: 37147716
Background: Our previous study suggested that assisted reproductive technology (ART) may be a possible risk factor for the development of epimutation-mediated imprinting disorders (epi-IDs) for mothers aged ≥ 30 years....
5.
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition
Yamazawa K, Sugano K, Tanakaya K, Inoue S, Murakami H, Nakashima M, et al.
Cancer Sci . 2023 Apr; 114(7):2993-3002. PMID: 37067535
Substantial numbers of variants of unknown significance (VUSs) have been identified in BRCA1/2 through genetic testing, which poses a significant clinical challenge because the contribution of these VUSs to cancer...
6.
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
Murakami H, Tanimoto Y, Tanimoto K, Inoue S, Ishikawa T, Makita N, et al.
Hum Genome Var . 2022 Aug; 9(1):28. PMID: 35941102
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives....
7.
hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited :TSS-DMR
Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M
J Med Genet . 2022 Jul; 59(12):1241-1246. PMID: 35906012
Background: Two imprinting control centres, :IG-differentialy methylated region (DMR) and :TSS-DMR, reside on chromosome 11p15.5. Paternal deletions involving the :TSS-DMR result in variable phenotypes, namely, normal phenotype, Silver-Russel syndrome (SRS)...
8.
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, et al.
J Hum Genet . 2022 May; 67(10):607-611. PMID: 35606504
Silver-Russel syndrome (SRS) is a representative imprinting disorder (ID) characterized by growth failure and diagnosed by clinical features. Recently, international consensus has recommended using the Netchine-Harbison clinical scoring system (NH-CSS)...
9.
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
Hara-Isono K, Nakamura A, Fuke T, Inoue T, Kawashima S, Matsubara K, et al.
J Clin Endocrinol Metab . 2022 May; 107(8):e3121-e3133. PMID: 35583390
Context: Children born small-for-gestational-age with short stature (SGA-SS) is associated with (epi)genetic defects, including imprinting disorders (IDs), pathogenic copy number variants (PCNVs), and pathogenic variants of genes involved in growth....
10.
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
Yagi Y, Abeto N, Shiraishi J, Miyata C, Inoue S, Murakami H, et al.
Hum Genome Var . 2022 Jan; 9(1):3. PMID: 35034951
Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old...