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
- 2021.1
- 수록면
- 369 - 372 (4page)
이용수
초록· 키워드
오류제보하기
Papillon?Lefevre syndrome (PLS) (OMIM: 245000) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset periodontitis, resulting in the premature loss of the deciduous and permanent teeth. PLS is caused by mutations in the cathepsin C (CTSC) gene (OMIM: 602365), which has been mapped to chromosome 11q14? q21. Genetic analysis can help early and rapid diagnosis of PLS. Here we report on a Chinese PLS pedigree with two affected siblings. We have identified two novel compound heterozygous mutations c.763T＞C (p.C255R) and c.1015C＞ A (p.R339S) in the CTSC gene. The two mutations expand the spectrum of CTSC mutations in PLS.
목차
등록된 정보가 없습니다.
참고문헌 (0)
참고문헌 신청함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome
Annals of Dermatology
2020 .01
-
Oral rehabilitation of Papillon?Lefevre syndrome patients by dental implants: a systematic review
대한구강악안면외과학회지
2020 .08
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
Yonsei Medical Journal
2018 .01
-
Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy
Journal of Retina
2019 .01
-
Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis
Annals of Laboratory Medicine
2015 .01
-
Successful Treatment of Tolosa-Hunt Syndrome after a Single Infusion of Infliximab
Journal of Clinical Neurology
2018 .01
-
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
Annals of Laboratory Medicine
2015 .01
-
Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
Annals of Laboratory Medicine
2019 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia
Journal of genetic medicine
2017 .01
-
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Clinical and Experimental Otorhinolaryngology
2017 .01
-
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
Cancer Research and Treatment
2020 .01
-
Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model
Journal of Korean Medical Science
2020 .01
-
Occult HBV among Anti-HBc Alone: Mutation Analysis of an HBV Surface Gene and Pre-S Gene
Yonsei Medical Journal
2017 .01
-
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Journal of Korean Medical Science
2019 .01
-
Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Clinical and Experimental Pediatrics
2019 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0