지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2023.4
- 수록면
- 491 - 505 (15page)
- DOI
- 10.1007/s13258-023-01369-7
이용수
초록· 키워드
오류제보하기
Background Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations, microcephaly, and autistic behavior. The analysis of the shortest region of overlap (SRO) between deletions in ~ 40 patients has led to the identification of two critical regions and four strongly candidate genes (BCL11A, REL, USP34 and XPO1). However, the delineation of their role in the occurrence of specific traits is hampered by their incomplete penetrance.
Objective To better delineate the role of hemizygosity of specific regions in selected traits by leveraging information both from penetrant and non − penetrant deletions.
Methods Deletions in patients that do not present a specific trait cannot contribute to delineate the SROs. We recently developed a probabilistic model that, by considering also the non − penetrant deletions, allows a more reliable assignment of peculiar traits to specific genomic segments. We apply this method adding two new patients to the published cases.
Results Our results delineate an intricate pattern of genotype − phenotype correlation where BCL11A emerges as the main gene for autistic behavior while USP34 and/or XPO1 haploinsufficiency are mainly associated with microcephaly, hearing loss and IUGR. BCL11A, USP34 and XPO1 genes are broadly related with brain malformations albeit with distinct patterns of brain damage.
Conclusions The observed penetrance of deletions encompassing different SROs and that predicted when considering each single SRO as acting independently, may reflect a more complex model than the additive one. Our approach may improve the genotype/phenotype correlation and may help to identify specific pathogenic mechanisms in contiguous gene syndromes.
목차
등록된 정보가 없습니다.
참고문헌 (0)
참고문헌 신청함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
미국의 Single-Room Occupancy(SRO)의 현황 및 거주환경적 특성분석
한국주거학회 학술대회논문집
2019 .11
-
Construction of Synaptic Neural Network for Genetic Interaction Analysis
Journal of The Korean Data Analysis Society
2021 .08
-
Bioinformatic identification and expression analysis of the chicken B cell lymphoma (BCL) gene
Genes & Genomics
2019 .01
-
Ubiquitin specific peptidase 47 promotes proliferation of lung squamous cell carcinoma
Genes & Genomics
2022 .06
-
A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay
Genes & Genomics
2017 .01
-
Genetic Change from Colorectal Carcinoma Patients Using Comparative Genomic Hybridization
대한임상검사과학회지
2015 .01
-
USP44 Promotes the Tumorigenesis of Prostate Cancer Cells through EZH2 Protein Stabilization
Molecules and Cells
2019 .01
-
Deletion diagnostics in fitting a given regression model to a new observation
CSAM(Communications for Statistical Applications and Methods)
2016 .05
-
Identification of transposable element-mediated deletions in 27 Korean individuals based on whole genome sequencing data
Genes & Genomics
2016 .01
-
Validation of a Fission Yeast Gene Deletion Library by Whole Genome Sequencing
한국미생물학회 학술대회논문집
2022 .10
-
The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men
Genes & Genomics
2023 .04
-
Genome-wide identification, characterisation and expression profile analysis of DEAD-box family genes in sweet potato wild ancestor Ipomoea trifida under abiotic stresses
Genes & Genomics
2020 .01
-
The SnRK2 family in pepper (Capsicum annuum L.): genome-wide identifcation and expression analyses during fruit development and under abiotic stress
Genes & Genomics
2020 .01
-
Genomic perspectives on epigenetics
Genes & Genomics
2022 .03
-
Genetic Hearing Loss and Gene Therapy
Genomics & informatics
2018 .01
-
Identification of Target Genes for VX-680 by a Genome-wide Screening of the Fission Yeast Deletion Library
한국미생물학회 학술대회논문집
2022 .10
-
An Efficient Markerless Deletion System Suitable for the Industrial Strains of Streptomyces
Journal of Microbiology and Biotechnology
2021 .12
-
Transcriptome Analysis of Acetic Acid-Treated Yeast Cells Identifies a Large Set of Genes Whose Overexpression or Deletion Enhances Weak Acid Tolerance
한국미생물학회 학술대회논문집
2015 .04
-
Enhancing performance of gene expression value prediction with cluster-based regression
Genes & Genomics
2021 .09
-
Deep Learning Identification of the Gene-Gene Interactions without the Need of thorough Investigation of Each Genomic Combination
Journal of The Korean Data Analysis Society
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0