A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
about
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndromeA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyMolecular genetics and pathophysiology of Menkes diseaseATP7A-related copper transport diseases-emerging concepts and future trendsA novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseFunctional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.Functional copper transport explains neurologic sparing in occipital horn syndrome.Drug targets in Menkes disease - prospective developments.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Galeterone and VNPT55 disrupt Mnk-eIF4E to inhibit prostate cancer cell migration and invasion.A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotypeTwenty-five novel mutations including duplications in the ATP7A gene.Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.
P2860
Q24539128-D570D35B-E9E4-43C3-9F4B-8DFF3AB05491Q24678781-AC856DB5-68F1-442A-ABCB-8E7F4668EF39Q28142471-1363A954-67C9-4A41-B747-A2A2333EE090Q28302938-02165661-9282-4A87-92F8-E904D9EF5436Q28367963-37E2AE47-E01E-4CF8-8912-97E9C63D2BFFQ33558941-89ECBBD0-774F-4BBF-A07E-DCB3909A2107Q34582025-61CA2C65-9C13-4906-A6D0-349C7D84C872Q35050435-11312257-B2A1-47C0-AA8F-14B11BF08768Q38071046-24843944-AF8E-41E0-94D6-B3186247B89EQ38746805-0E64E2C1-CC44-466D-9011-4085E7011269Q41097837-5A2F6E2F-9F46-4E3B-BB87-0919C05A8893Q46423654-4481F8B8-BC9C-431C-BEB7-9793836E5D7DQ48048226-136729E1-4C82-4722-965A-31828F3755E3
P2860
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A repeated element in the regu ...... t with occipital horn syndrome
@ast
A repeated element in the regu ...... t with occipital horn syndrome
@en
A repeated element in the regu ...... t with occipital horn syndrome
@nl
type
label
A repeated element in the regu ...... t with occipital horn syndrome
@ast
A repeated element in the regu ...... t with occipital horn syndrome
@en
A repeated element in the regu ...... t with occipital horn syndrome
@nl
prefLabel
A repeated element in the regu ...... t with occipital horn syndrome
@ast
A repeated element in the regu ...... t with occipital horn syndrome
@en
A repeated element in the regu ...... t with occipital horn syndrome
@nl
P2093
P356
P1476
A repeated element in the regu ...... t with occipital horn syndrome
@en
P2093
P304
P356
10.1093/HMG/5.11.1737
P407
P577
1996-11-01T00:00:00Z