Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. - Wikidata - wikimedia - TriplyDB

Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting.

Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting.

http://www.wikidata.org/entity/Q36143199

about

Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.Moyamoya disease and syndromes: from genetics to clinical management Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease Association of HLA-DR and -DQ Genes with Familial Moyamoya Disease in Koreans.A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians Identification of novel biomarker candidates by proteomic analysis of cerebrospinal fluid from patients with moyamoya disease using SELDI-TOF-MS.Genetic stroke syndromes Pediatric stroke: clinical findings and radiological approach Moyamoya syndrome in a known case of pulmonary tuberculosis.RNF213 rare variants in an ethnically diverse population with Moyamoya disease.Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.Familial lupus and antiphospholipid syndrome.The role of genetics in stroke Alternative exon skipping biases substrate preference of the deubiquitylase USP15 for mysterin/RNF213, the moyamoya disease susceptibility factor Clinical features and long-term follow-up of quasi-moyamoya disease in children.Genetic risk factors for stroke in the genome-wide association era.Recent advances in moyamoya disease: pathophysiology and treatment.An update on the diagnosis and treatment of adult Moyamoya disease taking into consideration controversial issues.Moyamoya angiopathy - Is there a Western phenotype?Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.Moyamoya disease in which pentazocine treatment caused cerebral infarction.Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic moyamoya angiopathy.Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.

P2860

Q24317590-950AC7B8-8180-498A-975A-4F9CBDEB2958 Q28086795-3F5C0BD9-3FED-4A2C-B456-2CADCF669CAC Q28115492-76E04164-F457-4B88-8A07-C40471CFFC83 Q33570495-A44CD416-EC72-4755-BC61-999E6F689B46 Q33577988-EBAFD22F-9707-4383-BADA-47127FBEED70 Q33665945-CAD9592E-2B7B-494F-9D31-1771FD8F1F80 Q33741146-D04D85C1-E609-46D6-8129-3DAFD01C2DF4 Q34522989-64DC7BF0-D221-43BD-B53A-D504533D9DCF Q34985308-157FD9CB-F6B9-499D-A8D3-808100AACFC8 Q35114359-8FCB4F99-DEA4-4965-AD08-1F03ED222352 Q35571989-D307AE8E-E085-4B8A-A02D-AB6109AB631A Q36411145-A5395C8D-1DA8-4934-9D17-03D419C7E49E Q36662500-04E51129-FA87-4397-B939-489EDF87D070 Q36915627-A2DBE3CF-452A-42A6-9958-87D54CEA4CAF Q36933027-D4AC9477-DE1C-49AF-96B6-E88DBBB059A5 Q37690395-59D245B6-0A98-47C6-AECB-9565DBFF91B0 Q37876088-091BD31E-9D21-4787-9A63-FDF1C79769C4 Q38088724-664B2BD1-F67B-4E16-AEC6-E0226492940D Q38169079-53CDBC63-B7AF-4D63-ABDB-626F6BDF08F3 Q38196952-36E59DFC-7611-4130-9626-7E7DF400F50B Q38609038-6D8CEF8F-F6FA-4739-AFD4-850ADBB74EB0 Q41637594-602A934A-40DB-4595-B078-0B93FFD68DEE Q42266655-99944346-1A49-43E4-A83C-63495D31E9F4 Q43812269-3248B2F1-625D-4DEB-8093-7CDED5A6DA59 Q47145221-8D29A0FC-85C0-4DAD-9035-E5BA240016B1

P2860

Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting.

http://www.wikidata.org/entity/Q36143199

description

2006 nî lūn-bûn

@nan

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

2006年论文

@zh

2006年论文

@zh-cn

name

Inheritance pattern of familia ...... t mode and genomic imprinting.

@ast

Inheritance pattern of familia ...... t mode and genomic imprinting.

@en

type

label

Inheritance pattern of familia ...... t mode and genomic imprinting.

@ast

Inheritance pattern of familia ...... t mode and genomic imprinting.

@en

prefLabel

Inheritance pattern of familia ...... t mode and genomic imprinting.

@ast

Inheritance pattern of familia ...... t mode and genomic imprinting.

@en

P1433

Q36143199-03912BD4-C75A-4FD8-B688-2FD2BE85200C

P1476

Q36143199-CC5BDCEA-A30B-4564-9DBA-3A0060AF4988

P2093

Q36143199-0B6AAE63-773B-4D5A-B3F5-DC83F723A087

Q36143199-210C8BB6-CC1B-4634-922A-8ADC1D9ED9E1

Q36143199-7F1B3C0D-877D-41E9-9AD0-B78FF6D650C7

Q36143199-A25BFB6C-A20D-4C69-B0C8-BE06C96D3C5D

Q36143199-AE5BC035-FB76-4AB5-94F2-D0CFD4669179

Q36143199-B01DE31D-58E6-4577-B671-9CC46751D5CF

Q36143199-B0391538-C6D1-42D8-8086-B760FED05171

Q36143199-C0025F87-5921-44E7-AE5C-22071DA237A9

Q36143199-EE435E8D-6CB4-4F56-A898-9581510E1422

Q36143199-F99480A5-96FE-44E7-B518-5FD20D1FC125

P2860

Q36143199-1B947529-B863-450E-B786-C2BB16C6B8AD

Q36143199-4CB8713E-DDCA-41BF-9873-38957EBD2A50

Q36143199-6ADD10FE-BCDF-4F18-AD0C-D8CCDD65845A

Q36143199-8A85C396-B311-4E8D-A196-63CF987AFD98

Q36143199-8B2B35FF-76EF-4839-B5F2-AA74299E3100

Q36143199-97599391-B97C-42DC-BBF8-8242FA54DD88

Q36143199-ADBF7B4C-4BD8-4A61-B9DF-25812EB8ECC4

Q36143199-B1B35A58-0D52-4E3E-B28A-2AF834E1C601

Q36143199-B233ECCC-A50A-4168-B8B4-4D31DE746347

Q36143199-F1D39E33-7B38-403A-B8B5-195F0056EE3F

P304

Q36143199-EBD84FE7-011E-46AA-8456-AA59277D2609

P31

Q36143199-6BAE065A-30B3-4A71-AA29-772E5762D88F

P356

Q36143199-95A153DD-91A0-4F50-B4B2-0FDB85B104D0

P407

Q36143199-A6519657-0E80-48D4-B1A7-ABAEC825F332

P433

Q36143199-BAB0DB3D-F465-42C0-8502-56569C236908

P478

Q36143199-F33EBF48-2095-4697-BAF1-599013F8F1CD

P577

Q36143199-19372DE9-E427-4DF2-BD81-4D7B76B965EB

P5875

Q36143199-2DE954E1-FEDA-4AB9-B21E-AF21026E35FD

P698

Q36143199-B89A49B2-27C7-4AC4-88C9-E9512B927A7B

P932

Q36143199-FFE48634-48DA-4CC7-9AC6-92C675EDBBB2

P356

JNNP.2006.096040

P1433

Journal of Neurology, Neurosurgery and Psychiatry

P1476

Inheritance pattern of familia ...... t mode and genomic imprinting.

@en

P2093

A Koizumi

http://www.w3.org/2001/XMLSchema#string

H Ikeda

http://www.w3.org/2001/XMLSchema#string

H Yamakawa

http://www.w3.org/2001/XMLSchema#string

K Inoue

http://www.w3.org/2001/XMLSchema#string

K Nozaki

http://www.w3.org/2001/XMLSchema#string

K Takenaka

http://www.w3.org/2001/XMLSchema#string

K-I Kikuta

http://www.w3.org/2001/XMLSchema#string

N Hashimoto

http://www.w3.org/2001/XMLSchema#string

Y Mineharu

http://www.w3.org/2001/XMLSchema#string

Y Takagi

http://www.w3.org/2001/XMLSchema#string

P2860

Epigenetics: regulation through repression.

Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey.

Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

Adult unilateral moyamoya disease with familial occurrence in two definite cases: a case report and review of the literature.

Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis ('moyamoya' disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan.

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Familial association of basilar bifurcation aneurysm and moyamoya disease--four case reports.

Moyamoya disease associated with persistent primitive trigeminal artery variant in identical twins.

Familial occurrence of moyamoya disease: a clinical study.

Noonan syndrome and moyamoya.

P304

1025-1029

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1136/JNNP.2006.096040

http://www.w3.org/2001/XMLSchema#string

P407

P433

9

http://www.w3.org/2001/XMLSchema#string

P478

77

http://www.w3.org/2001/XMLSchema#string

P577

2006-06-20T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

6996230

http://www.w3.org/2001/XMLSchema#string

P698

16788009

http://www.w3.org/2001/XMLSchema#string

P932

2077755

http://www.w3.org/2001/XMLSchema#string