ST3GAL3 mutations impair the development of higher cognitive functions. - Wikidata - awgldk - TriplyDB

ST3GAL3 mutations impair the development of higher cognitive functions.

ST3GAL3 mutations impair the development of higher cognitive functions.

http://www.wikidata.org/entity/Q34215113

about

Dysregulated Expression of Glycolipids in Tumor Cells: From Negative Modulator of Anti-tumor Immunity to Promising Targets for Developing Therapeutic Agents Neurological aspects of human glycosylation disorders Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.BOD1 Is Required for Cognitive Function in Humans and Drosophila.A systematic evaluation of hybridization-based mouse exome capture system Sialylation regulates brain structure and function.Mutations in NSUN2 cause autosomal-recessive intellectual disability.Understanding human glycosylation disorders: biochemistry leads the charge.Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study.Gene and Network Analysis of Common Variants Reveals Novel Associations in Multiple Complex Diseases.A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype Associations of genetic polymorphisms of Siglecs with human diseases.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Metabolic Remodeling of Cell-Surface Sialic Acids: Principles, Applications, and Recent Advances.De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Defective ST3GAL3 causes MCT12 and EIEE15 Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Novel Loci Associated With Attention-Deficit/Hyperactivity Disorder Are Revealed by Leveraging Polygenic Overlap With Educational Attainment.Defective ST3GAL3 does not transfer SA to keratan Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Keeping it trim: roles of neuraminidases in CNS function

P2860

c945057b369e3ab190d723f9f2ccef9d1121b7c1

P248

Q26771367-56609E3F-99D8-4A0D-A6A0-091E3398C033 Q26830686-3E4DA04F-5F8A-4F7B-9B93-396D73041A71 Q26995291-BADF8FEF-E956-4BB0-9AA8-475EB2AC9B86 Q27021835-29AB3CA0-0550-4560-9C4E-59E37F696C79 Q29147451-F21F092F-7747-4754-942D-F450FE04BFA3 Q34009396-13DC2EF5-9638-44BF-B4F9-A4459EC529CD Q34526053-C8FCD4D9-605E-4FD9-AC39-AA6B22D00E2E Q34840409-319B7488-9BA1-47AA-91C0-8C892DA95B8D Q35774811-3BF84A2E-39E0-481E-BEE5-01723C34130D Q36036572-CDCD3A50-1EE1-40CB-BACE-A0913A17F4B4 Q36666135-5D145BF9-E282-4104-B921-370912D14B75 Q37238142-F455D913-DAB8-443B-A551-AA720734F837 Q37347795-87D4571D-3EC3-4573-A11C-E39C933BB911 Q37406440-C833C79C-0C5D-40CD-B190-113328F11A62 Q38006841-1A5EC534-06B6-48AA-8605-5EE61153E18C Q38212860-F323B167-57A7-4F70-93AE-D802C2F8AADA Q38384453-CFEBF6D6-D7CC-474E-A1EA-D375C4307CB4 Q38634704-8F8CD01F-47FE-45C6-999B-579B1264CA85 Q39081926-09539F18-B480-4183-BD41-686CB90CF68C Q41932231-2AA1EB0C-7567-4A31-9410-49E7E2A07586 Q42696785-29CCD3B3-5233-414C-8569-9686E1B149D5 Q45316525-1619670F-55E0-4DD7-AB1F-F310DC3ED6B3 Q46689496-5D23ECBE-2C03-4440-AFB4-C8320A08DA7E Q50107952-7946F120-BE89-45F5-9355-AC46FAA37D4D Q50289207-74FB4101-D5BE-4C4E-AB57-D8E3BED157BD Q55057717-41238D77-611A-4CEC-8D8C-4264EEC7E7C5 Q58796525-B21226B7-0D57-449F-A1DB-B5825B9AFB43

P2860

ST3GAL3 mutations impair the development of higher cognitive functions.

http://www.wikidata.org/entity/Q34215113

description

2011 nî lūn-bûn

@nan

2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

ST3GAL3 mutations impair the development of higher cognitive functions.

@ast

ST3GAL3 mutations impair the development of higher cognitive functions.

@en

ST3GAL3 mutations impair the development of higher cognitive functions.

@nl

type

label

ST3GAL3 mutations impair the development of higher cognitive functions.

@ast

ST3GAL3 mutations impair the development of higher cognitive functions.

@en

ST3GAL3 mutations impair the development of higher cognitive functions.

@nl

prefLabel

ST3GAL3 mutations impair the development of higher cognitive functions.

@ast

ST3GAL3 mutations impair the development of higher cognitive functions.

@en

ST3GAL3 mutations impair the development of higher cognitive functions.

@nl

P1433

Q34215113-592CBB55-FA51-457F-8376-76CA9B3AC0A5

P1476

Q34215113-432B631F-6D08-4311-8D58-9E8DE3053E0C

P2093

Q34215113-02468E74-9E92-4BB5-8729-CBEE0BBEE690

Q34215113-5F9C5A91-91F2-4494-A7F7-B5568253BAC3

Q34215113-62EF5A0A-DC3E-4B63-BA25-021EF16A8A69

Q34215113-78068917-C60E-469E-934D-9D9AEB67E15D

Q34215113-7F2165EA-4212-4752-8933-01ED38150A7A

Q34215113-800CF627-DC47-4D79-A467-CAADF4DC8C80

Q34215113-81A80799-FD7D-4C3A-BDDF-6D98171EAB7F

Q34215113-963A329F-4D02-4F36-A7FC-5B91A0AE18EC

Q34215113-AB7ECCF5-0654-4DE7-9BB4-E3282C6BEF77

Q34215113-E676BF36-6AB3-4414-B477-E98D252DF5E4

P2860

Q34215113-01CC00AD-6566-4ECB-B109-693658E079B1

Q34215113-06C1F78C-70E8-423E-8267-6606F623FA60

Q34215113-152CD884-C781-47D7-B747-6ED4F0B5A58D

Q34215113-166A2176-01BB-419B-80F1-E7EEAD8E29B0

Q34215113-1F1EC818-8DDE-4964-9326-1A280C92E472

Q34215113-222ADA0A-94B7-4069-B535-7F091AC796EC

Q34215113-22A3D8DF-27C5-4276-9076-A1D7AF5FD7B0

Q34215113-2C6AD40B-6BD5-4382-B415-00F9ED2B7111

Q34215113-2FF16D17-EEAD-4448-AEB6-DDBFE00B9C93

Q34215113-32429AD1-2943-48B5-9A95-C8613BB92AFC

P304

Q34215113-3A6B26DD-44C0-4514-8856-E6CE369F3753

P31

Q34215113-18F93369-910E-4C85-A514-D3A77781DA60

P356

Q34215113-64759D26-CF28-4FCE-91C9-A670C11E925F

P407

Q34215113-3170CA22-27AD-477B-A623-0E586C5DD374

P433

Q34215113-F9E072DA-EFD4-41CB-AA57-EDD7E8A7F1FF

P478

Q34215113-AE05C652-E169-4217-929C-BADD3AEC6EAC

P50

Q34215113-38A74EF0-DFD7-401B-ACC8-783F018C9E10

Q34215113-636C4EDB-5753-4B11-9F36-88A36654D6D4

Q34215113-66624B5E-03F3-473B-94C1-B2617B9F7F20

Q34215113-D7E9363F-8C48-45EF-9FC3-C49A639F8D7B

Q34215113-FB2D6EB8-CFAD-4FD3-8AAB-9BD335923E0C

P577

Q34215113-E7D2FFFF-15BB-45BC-ACAA-3A9D2EE9F98E

P5875

Q34215113-6EF5AC68-C9E0-4EE6-8101-23E182903AB0

P698

Q34215113-1E8F163C-BE5F-4462-BD5E-A373BF726B4D

P932

Q34215113-A9309599-63E2-4DC3-87D5-A820A51A63E3

P356

J.AJHG.2011.08.008

P1433

American Journal of Human Genetics

P1476

ST3GAL3 mutations impair the development of higher cognitive functions

@en

P2093

Andreas Tzschach

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

Andreas W Kuss

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

H Hilger Ropers

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

Hao Hu

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

Ideh Bahman

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

Katinka Eggers

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

Klaus Wrogemann

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

M Mahdi Motazacker

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

Martina Mühlenhoff

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

Masoumeh Hosseini

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

P2860

Immunocytochemical localization of galactosyltransferase in HeLa cells: codistribution with thiamine pyrophosphatase in trans-Golgi cisternae

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase

Characterization of expression of glycan ligands for Siglec-F in normal mouse lungs

A map of human genome variation from population-scale sequencing

Colloquium paper: uniquely human evolution of sialic acid genetics and biology

Cleavage of structural proteins during the assembly of the head of bacteriophage T4

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

SOAP2: an improved ultrafast tool for short read alignment

Siglecs and their roles in the immune system

P304

407-414

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

P31

scholarly article

P356

10.1016/J.AJHG.2011.08.008

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

P407

P433

3

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

P478

89

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

P50

Hossein Najmabadi

Masoud Garshasbi

P577

2011-09-01T00:00:00Z

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

P5875

51638510

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

P698

21907012

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

P932

3169827

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