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
- 2019.1
- 수록면
- 1 - 9 (9page)
이용수
초록· 키워드
오류제보하기
Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.
목차
등록된 정보가 없습니다.
참고문헌 (45)
참고문헌 신청
van der Burgt I / 1994 / Clinical and molecular studies in a large Dutch family with Noonan syndrome / Am J Med Genet 53:187~191
Roberts AE / 2013 / Noonan syndrome / Lancet 381:333~342
Digilio MC / 2002 / Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene / Am J Hum Genet 71:389~394
Nava C / 2007 / Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway : genotype-phenotype relationships and overlap with Costello syndrome / J Med Genet 44:763~771
Tartaglia M / 2002 / PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity / Am J Hum Genet 70:1555~1563
Roberts AE / 2013 / Noonan syndrome / Lancet 381:333~342
Digilio MC / 2002 / Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene / Am J Hum Genet 71:389~394
Nava C / 2007 / Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway : genotype-phenotype relationships and overlap with Costello syndrome / J Med Genet 44:763~771
Tartaglia M / 2002 / PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity / Am J Hum Genet 70:1555~1563
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Mechanism and Treatment of Learning and Memory Deficits in Mouse Models of Rasopathy
한국실험동물학회 학술발표대회 논문집
2015 .08
-
A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
Journal of genetic medicine
2019 .01
-
누난 증후군(Noonan syndrome) 환자의 전신마취 하 치과치료 : 증례보고
International Journal of Disability and Oral Health
2017 .06
-
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Clinical and Experimental Pediatrics
2016 .01
-
Oral Features in a Child with Noonan Syndrome : A Case Report
대한소아치과학회지
2018 .01
-
성인에서 악성고혈압을 동반한 누난증후군
대한내과학회지
2015 .01
-
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
Annals of Pediatirc Endocrinology & Metabolism
2017 .01
-
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome
Annals of Pediatirc Endocrinology & Metabolism
2017 .01
-
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Clinical and Experimental Pediatrics
2019 .01
-
Effectiveness of growth hormone therapy in children with Noonan syndrome
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
Vascular compression syndromes: a pictorial review
ULTRASONOGRAPHY
2022 .07
-
Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome
Annals of Pediatirc Endocrinology & Metabolism
2016 .01
-
A novel gene switch optimized for zebrafish transgenesis
한국실험동물학회 학술발표대회 논문집
2022 .07
-
Myelodysplastic syndromes and overlap syndromes
Blood Research
2021 .04
-
Myelodysplastic syndromes and overlap syndromes
Blood Research
2021 .01
-
근육 강직 증후군: 진단적 어려움
대한족부족관절학회지
2019 .01
-
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of genetic medicine
2015 .01
-
Kabuki syndrome: clinical and molecular characteristics
Clinical and Experimental Pediatrics
2015 .01
-
누난 증후군 환아에서 시행한 인공와우이식술 결과
대한이비인후-두경부외과학회지
2019 .01
-
한의학 학술지에 게재된 안구건조증에 대한 논문 고찰
동의생리병리학회지
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0