about
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general populationLong-term safety and efficacy of human-induced pluripotent stem cell (iPS) grafts in a preclinical model of retinitis pigmentosaLong-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lectureUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyMutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyRetinal Cell Degeneration in Animal ModelsConstitutively active rhodopsin and retinal diseaseThe role of mislocalized phototransduction in photoreceptor cell death of retinitis pigmentosaRhodopsin mutant P23H destabilizes rod photoreceptor disk membranesThe Diversity of Spine Synapses in AnimalsOcular pulse amplitude is reduced in patients with advanced retinitis pigmentosaImmunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cellsThe effects of IRE1, ATF6, and PERK signaling on adRP-linked rhodopsinsMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsMutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaDifferential light-induced responses in sectorial inherited retinal degeneration.Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants.Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.XIAP protection of photoreceptors in animal models of retinitis pigmentosa.Non-invasive stem cell therapy in a rat model for retinal degeneration and vascular pathology.Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutationsEngineering retina from human retinal progenitors (cell lines).A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.Physical Activity and Quality of Life in Retinitis PigmentosaMicroincision vitrectomy surgery in vitreomacular traction syndrome of retinitis pigmentosa patients.Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.Extended wearing trial of Trifield lens device for 'tunnel vision'Identification of core amino acids stabilizing rhodopsin.Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods.Calpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant ratsMutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosaA 350 bp region of the proximal promoter of Rds drives cell-type specific gene expression.Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationWhole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa
P2860
Q21560782-CB6B3849-A7A0-43D6-9BF8-94451B08DC24Q24600170-F1CDBB9B-B4AE-4CFF-BE26-A083368B82A6Q24628682-B1B62635-DD60-47FE-9B3B-668F9810B7EEQ24646440-5C1AA28D-01A0-439D-8994-422A9FBFF442Q24655474-13B28CFF-D74E-4BA3-8F07-C0DBE1B481E9Q24674843-A7C31CFF-8CE6-46F5-B17F-0ED43D2E08C8Q26771160-76D3DE61-BEBB-4DEA-A761-8E82E91B96D6Q27023938-B0F0421C-3585-47D9-B283-08BA9F0FCEDAQ27308102-5C22502F-9A2C-406F-BDC4-56A9B7C79CCBQ27310120-D612E485-EA92-4E69-AC74-B2C79B9936E8Q28077465-D9FA626B-404F-41CA-AFBE-6AE0737F23FBQ28365758-8B305977-2872-45CE-8B25-16EE3D324979Q28513878-45DD6EF2-64FA-45DA-910F-621E3D1E9D82Q28820980-BC438EF6-5C65-4A01-BB47-76A08B5FBE35Q28975783-239342FD-D0CF-45AE-B23F-B9809934B459Q29147466-FEE56117-4832-4EEC-8A4A-D6878B55AD45Q30368295-D1BB4719-08C2-4D61-AEC8-84657EFF4C9DQ30988298-648FFE94-5007-42BD-8DD3-3DEED8230E53Q33239006-41724DC7-538A-4916-A934-C8C9FA2B9933Q33279531-1B013622-6941-4E6C-ACD0-9F63FE1B7701Q33532634-878DB167-F335-4165-97A2-48470EA69A24Q33584461-AE41A807-E671-4DE8-BF10-809FE7EDAB19Q33606405-2B7B7115-7203-41F9-95F0-194B7461CF51Q33661285-F3D3E5BB-9267-4ED3-9647-8F553E900236Q33741324-C4D25977-FD39-411B-A8AD-098680730C0AQ33804090-97452C14-C0E2-4708-BE89-2760D312AE48Q33825000-DA35A17F-5D12-4834-B0F2-4C23AFB9A8B2Q33839216-69452E63-8C7D-41FA-B7EB-701F1943DF66Q33904229-A8430653-01C7-400D-8DBF-588891ECA108Q33944067-BE725F51-ACF7-4102-A2BB-A965564643EBQ33963936-84C9EB2B-AE6C-4F79-991B-8F56CD08331CQ34050979-D45F4887-2B93-474B-A8E8-94CFB696E5B4Q34081528-1BA55CAC-6892-48D4-941F-EB904FFD055EQ34085940-D718E533-CA5C-487B-B7F7-E9075F341A9CQ34086505-E5C962C6-0D31-4A02-89F0-FD87099AA29DQ34088214-71AC9E87-B73C-4CF5-A484-7CC99473962FQ34119861-9644A31A-C1EF-4A2F-A3CE-344BCC81E300Q34135509-0053026B-4AA0-4133-8F99-E8B0B5355CF4Q34157723-7C28EB94-57C5-4B96-815B-3661F732D95CQ34277608-7DA9319B-B027-4124-8683-C82BA5ECCA1E
P2860
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
@zh-hant
name
Retinitis pigmentosa. The Friedenwald Lecture.
@en
type
label
Retinitis pigmentosa. The Friedenwald Lecture.
@en
prefLabel
Retinitis pigmentosa. The Friedenwald Lecture.
@en
P1476
Retinitis pigmentosa. The Friedenwald Lecture.
@en
P2093
P304
P407
P577
1993-04-01T00:00:00Z