Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
about
TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transportAbnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.Human diseases associated with form and function of the Golgi complex.Skin manifestations in CDG.Congenital disorders of glycosylation: new defects and still counting.H+ and Pi Byproducts of Glycosylation Affect Ca2+ Homeostasis and Are Retrieved from the Golgi Complex by Homologs of TMEM165 and XPR1.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.Plants contain small families of UPF0016 proteins including the PHOTOSYNTHESIS AFFECTED MUTANT71 transporter.Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
P2860
Q24297193-085A2F1F-E02B-463B-9277-2538F3FB4BBFQ35541739-884D5FA0-BF83-4DAA-A70C-F876ED41B630Q38136397-5550EA2E-3544-4268-8972-81DBDEF9506DQ38189728-15EC1A1B-A7A6-473F-A1FC-D4D99247233DQ38211994-00BF4416-EC67-459C-80A1-B7AE09C48C3EQ47094014-AAEAD6AC-C2D0-43FC-928F-6FBC0DB30C63Q47115793-241389A3-0507-41A9-AD9A-28D3A9203CCAQ48583701-E00FE428-767E-41FB-A16E-2B04C140B2D6Q50474177-3D6B9892-6B08-4CF4-8DAF-8BD3D9056DF8Q51200637-97D97C24-B4A2-4E98-8A52-FC466356F711Q53226516-D4C2478A-AD76-4DCB-ABC8-F7B1EC8012E5
P2860
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Bone Dysplasia as a Key Featur ...... ic Splice Mutation in TMEM165.
@en
type
label
Bone Dysplasia as a Key Featur ...... ic Splice Mutation in TMEM165.
@en
prefLabel
Bone Dysplasia as a Key Featur ...... ic Splice Mutation in TMEM165.
@en
P2093
P2860
P356
P1476
Bone Dysplasia as a Key Featur ...... nic Splice Mutation in TMEM165
@en
P2093
F de Zegher
G Matthijs
L Sturiale
R Zeevaert
P2860
P304
P356
10.1007/8904_2012_172
P577
2012-08-22T00:00:00Z