Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

http://www.wikidata.org/entity/Q37723405

about

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease Nucleotide salvage deficiencies, DNA damage and neurodegeneration Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways Purinosome formation as a function of the cell cycle Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?The human β-amyloid precursor protein: biomolecular and epigenetic aspects.Transcriptomic approach to Lesch-Nyhan disease.The Use of Perinatal 6-Hydroxydopamine to Produce a Rodent Model of Lesch-Nyhan Disease.International Union of Basic and Clinical Pharmacology. CI. Structures and Small Molecule Modulators of Mammalian Adenylyl Cyclases.Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome.New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.Lesch-Nyhan disease with no HPRT1 gene mutation?Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.Skewed X inactivation in Lesch-Nyhan disease carrier females.The Purine Salvage Pathway and the Restoration of Cerebral ATP: Implications for Brain Slice Physiology and Brain Injury.Whither the genotype-phenotype relationship? An historical and methodological appraisal.Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.Novel mutation in HPRT1 causing a splicing error with multiple variations.Inborn errors of purine metabolism: clinical update and therapies.Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?A gene-phenotype relationship extraction pipeline from the biomedical literature using a representation learning approach.Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout Genetic Background of a Juvenile Onset Gout Patient

P2860

Q27026628-2ABCE8C7-42EB-4BAB-A841-79B48A5CEE1E Q28081515-41DA08D0-75A3-4240-958C-68021B0B0CAC Q30380362-612A3414-7FE4-42FA-BCA0-D4132F6E779A Q33994167-13890CC7-A0E3-4DB9-8FB8-AE8E2B01ED22 Q34778923-63E6CD67-C314-4B87-B7B6-13AA458065E6 Q35062843-A6C64E1B-6AD3-428B-B8A3-2F10AE87B29D Q36785495-3174587B-9001-491B-AA8B-11F561FD80C4 Q37599120-37B04368-C333-4567-8A47-5E3E9BACFB56 Q38221149-C8F7417F-7D18-4D58-B911-18A65CF1D96E Q38365416-E8415460-94E3-4CD2-8CB7-D959AB2C4B76 Q38475886-1947EE42-ADBA-4B3D-88BD-F68C2C619D7C Q38794023-7085F557-A47E-467E-B7F2-B16BB87B81BB Q39158851-AB6658D3-8181-455D-84EA-85008F1106EE Q40510522-39949467-1598-427F-ABF9-7B7F2D236FBE Q41810483-91A524F1-8B98-46A7-88EB-86A2C2038377 Q41844681-0BA7D277-5899-4890-9138-77D1DB2E94E8 Q42118925-841572DA-FB42-4EA1-B303-0CA60F621AA2 Q43721389-FD37BCF3-1EF3-4CA2-BD40-EAA2FB1E7AE5 Q44828155-3C8686C5-8177-4EB5-997A-E9EA4A6F9C6F Q46170273-53934770-EBEB-46AD-8803-B39559A4E5EA Q46412718-43F7C647-4864-44B3-8763-BD0814819D06 Q47352859-D671C0F4-B258-4A81-9837-D97EE63B2AFD Q47640696-C9248BAB-6453-4C67-8F89-A1F646B7966E Q48142175-376A680E-C936-4F22-9D2D-66440BE68EEC Q48188531-5D1303FD-2370-49A2-91A2-C93852ED0805 Q48271175-40FE07B5-5CC6-4CAE-B057-34B71B82849B Q50161799-F5F362E0-580A-4599-9645-6A34BB3608DC Q50347597-B7B94F60-39D1-442B-BB05-53AE57057D9B Q50483467-576FF129-47AE-43D5-AEC8-62C03A6F1C11 Q54341718-188E3AE1-FD36-473B-9AE0-D9A40F5A2AAE Q55114842-5FC3FDCD-8B04-4504-8D1A-20D6EC001FB7 Q55514192-58DFCAC9-6971-4791-ABA3-36D0659D489D Q57174959-11078758-942A-47EC-9552-00205EFAB3D7 Q58765862-6EE3B1D4-D3AB-4058-9181-4B32F83DAB19

P2860

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

http://www.wikidata.org/entity/Q37723405

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 22 August 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Genotype-phenotype correlation ...... n disease as a model disorder.

@en

Genotype-phenotype correlation ...... n disease as a model disorder.

@nl

type

label

Genotype-phenotype correlation ...... n disease as a model disorder.

@en

Genotype-phenotype correlation ...... n disease as a model disorder.

@nl

prefLabel

Genotype-phenotype correlation ...... n disease as a model disorder.

@en

Genotype-phenotype correlation ...... n disease as a model disorder.

@nl

P1433

Q37723405-604E8B72-C5A2-43A3-9765-0F61492C5D80

P1476

Q37723405-3BA6D54E-BCFA-469B-8A82-E6ED1D97E430

P2093

Q37723405-1147A590-2046-4293-A899-3A4639406DAF

Q37723405-29983F31-86AE-4CBF-8EB5-D7AF524D8A25

Q37723405-2AAF44E4-70FF-4AA8-BE5D-E6F69ED4E369

Q37723405-660FEB0B-1A2D-4D82-9A84-7F289D1FFBF4

Q37723405-7F56CCC7-E130-4BDE-9892-E3434098DCB2

Q37723405-8A8A04B8-58DC-41C7-8FCD-A8D851018A19

Q37723405-98F0DE23-66DA-4380-A6D3-8B251D7B25D2

Q37723405-A4B3D79B-222B-4581-A784-241BB28609B3

Q37723405-AAA99010-446E-40A0-95B5-1A158E2D75F3

Q37723405-B9A1084A-E894-49C4-B68D-F86457A0027C

P2860

Q37723405-0141A0B8-7B6F-45A9-B7EA-E163BAE22CA2

Q37723405-03799BB7-5FF8-4A5D-8EEC-1D0CCAF7A4D6

Q37723405-04BB6104-6CE8-4C48-B678-7776B1DD8DB1

Q37723405-05B8464E-8DE0-4399-A167-DD94450E588E

Q37723405-0909F223-B983-4A60-B094-E50A859C5AD0

Q37723405-0C2C4B62-1E70-45AB-947F-8915AE6B98E5

Q37723405-0D428B9A-946C-4944-85D3-654F9927ED65

Q37723405-0FBF7284-EE68-4F5C-B927-8B25D7125577

Q37723405-101D96DD-72DC-4EBC-9E18-C1F4D857CE0E

Q37723405-11787683-51C6-4978-B87F-65AAA7495C49

P304

Q37723405-A3688FFE-6635-4362-A872-ECA397744566

P31

Q37723405-5CDF8F73-5B89-4DEA-859F-30733CAA5103

P356

Q37723405-F12D2BDA-0550-4134-A15C-50624F273F30

P407

Q37723405-BE749B62-D183-4162-B80A-0D17D4AD976D

P433

Q37723405-68F7ED5A-612D-44A8-A84C-DF82F157538E

P478

Q37723405-A589E31E-1CBB-4FED-9B25-D1CC87F489F7

P577

Q37723405-33C64C57-8DCF-4E51-8A5C-1A732D30A079

P5875

Q37723405-B97EC228-C19F-43FD-82B3-DE60B0D58304

P698

Q37723405-FDDB82BB-E087-4551-A873-7E75546D95DF

P921

Q37723405-6078F2D0-57CC-44A0-B4EF-3DDA6E5C2CB0

P932

Q37723405-A5C75786-831E-4E05-AD27-30929897CA73

P356

P1433

P1476

Genotype-phenotype correlation ...... n disease as a model disorder.

@en

P2093

David J Schretlen

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

H A Jinnah

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

Irene Ceballos-Picot

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

Jasper E Visser

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

Juan G Puig

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

Khue V Nguyen

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

Laura E Larovere

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

Lesch-Nyhan Disease International Study Group

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

Madhuri Hegde

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

Patrick J O'Neill

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

P2860

The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle

Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo

The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP

Molecular analysis of a female Lesch-Nyhan patient

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

Ternary complex structure of human hgprtase, prpp, mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding

A method and server for predicting damaging missense mutations

Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure

P304

1282-1303

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

P31

scholarly article

P356

10.1093/BRAIN/AWT202

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

P407

P433

Pt 5

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

P478

137

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

P577

2013-08-22T00:00:00Z

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

P5875

262044657

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

P698

23975452

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

P921

Mal de parkinso

P932

3999711

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