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
- 2017.1
- 수록면
- 462 - 464 (3page)
이용수
초록· 키워드
오류제보하기
Dear Editor, Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. The gene involved in PJS is mapped to chromosome 19p13.3 and encodes a serine-threonine protein kinase (STK11) known as LKB1 [1, 2]. Here, we report a PJS patient with unique phenotypic features who had heterozygous deletions spanning exons 1–10 of STK11 gene.
목차
등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Amos CI / 2004 / Genotype-phenotype correlations in Peutz-Jeghers syndrome / J Med Genet 41 : 327 ~ 333
Hearle NC / 2006 / Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome / J Med Genet 43 : e15 ~
Hemminki A / 1997 / Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis / Nat Genet
Hemminki A / 1998 / A serine/threonine kinase gene defective in Peutz-Jeghers syndrome / Nature 391 : 184 ~ 187
Le Meur N / 2004 / Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome / Eur J Hum Genet 12 : 415 ~ 418
Hearle NC / 2006 / Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome / J Med Genet 43 : e15 ~
Hemminki A / 1997 / Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis / Nat Genet
Hemminki A / 1998 / A serine/threonine kinase gene defective in Peutz-Jeghers syndrome / Nature 391 : 184 ~ 187
Le Meur N / 2004 / Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome / Eur J Hum Genet 12 : 415 ~ 418
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Solitary Peutz-Jeghers type harmartomatous polyp in duodenum with gastric foveolar epithelium: a case report
Journal of Pathology and Translational Medicine
2023 .03
-
A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome
Journal of Pathology and Translational Medicine
2017 .01
-
A rare case of gastric-type mucinous adenocarcinoma in a woman with Peutz-Jeghers syndrome
Obstetrics & Gynecology Science
2019 .01
-
Investigating the role of Serine/Threonine Protein Kinase 32C (STK32C) in lung cancer
한국실험동물학회 학술발표대회 논문집
2021 .01
-
STK3/4 expression is regulated in uterine endometrial dells during the estrous cycle
한국실험동물학회 학술발표대회 논문집
2021 .07
-
Decoding the substrate of YANK 3 leads to novel anticancer compounds
한국실험동물학회 학술발표대회 논문집
2019 .01
-
Utilization of end to side inverted mattress pancreaticojejunostomy for Duval procedure: A case report
Annals of Hepato-Biliary-Pancreatic Surgery
2022 .11
-
Regulation of LC3B phosphorylation via STK4 in the uterus during the estrous cycle
한국실험동물학회 학술발표대회 논문집
2019 .01
-
Proposal of a Risk Scoring System to Facilitate the Treatment of Enteroenteric Intussusception in Peutz-Jeghers Syndrome
Gut and Liver
2023 .03
-
Regulation of STK4 expression in the mouse uterine endometrium during the estrous cycle
한국실험동물학회 학술발표대회 논문집
2018 .01
-
Expression of STK4 in oocyte maturation and fertilization stages in mice
한국실험동물학회 학술발표대회 논문집
2019 .07
-
Effects of e2f3 gene deletion in mice
한국실험동물학회 학술발표대회 논문집
2020 .02
-
Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Prenatal diagnosis of 4p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
Annals of Laboratory Medicine
2015 .01
-
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of genetic medicine
2015 .01
-
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
Annals of Laboratory Medicine
2018 .01
-
Low-cost model for pancreatojejunostomy simulation in minimally invasive pancreatoduodenectomy
Annals of Hepato-Biliary-Pancreatic Surgery
2023 .11
-
Chromosome 11q13 deletion syndrome
Clinical and Experimental Pediatrics
2016 .01
-
Roles of Capsule Endoscopy and Device-Assisted Enteroscopy in the Diagnosis and Treatment of Small-Bowel Tumors
Clinical Endoscopy
2020 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0