Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells - Wikidata - wikimedia - TriplyDB

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

http://www.wikidata.org/entity/Q24633620

about

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.X chromosome inactivation and the diagnosis of X linked disease in females Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.Adrenoleucodystrophy: a molecular genetic study in five families.Adrenoleukodystrophy in a mother and son.X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.Sex-based differences in gene transmission and gene expression.The dominance theory of Haldane's rule Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect.Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.Frequent alterations of visual pigment genes in adrenoleukodystrophy Clonal evolution in human lymphoblast cultures.Selection against lethal alleles in females heterozygous for incontinentia pigmenti Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation.Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons.Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.Transforming Theory into Preventive Genetics in rural Communities.Derivation of consensus inactivation status for X-linked genes from genome-wide studies X inactivation in females with X-linked Charcot-Marie-Tooth disease.Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

P2860

Q24567552-DC147AE1-EE12-4A79-AAC1-19A892B3E5A4 Q24673754-58AD5C60-412A-4498-85C2-B138CE590673 Q26829999-AA0590F3-3272-4009-AB2D-3C56D9282261 Q28270437-57CB7922-A2A2-4FFD-882F-E98C98EB5962 Q28477189-3C019B5D-8105-481C-8320-19DAD2829D3D Q33570660-E5951E69-BAAE-4444-AFFD-E5BDB217D1B1 Q33595049-A53EA6F6-C4F5-47C7-B8DB-06B6FE180AA3 Q33595666-4B41D625-1444-4617-9A06-6252AA10C6E2 Q33598211-614486A9-F882-43A0-995C-1C30330EDCFC Q33598251-94A1E0E2-C55B-49AA-83D0-F293CB25F671 Q33629275-E7FF4485-6333-4639-A183-D0BC2FFC9C52 Q33677696-2E8573F5-9847-4749-96A1-7C60E3DBD99B Q33716524-62F417D4-BD26-4366-8CDA-08A34E6B9DFE Q33965121-5290ABE9-E491-4D81-90D5-7B527A3DD766 Q34206865-11C83BE6-44BD-414D-BC55-1374A073A442 Q34571510-58C4D31D-61CD-412D-A2F0-6D9F182B64DF Q34613369-580B92EA-0BFE-46FB-BE83-C138E4B80197 Q35015824-05EC8BDF-CB77-4F8F-A644-93527D155063 Q35197526-9114F3FB-483F-4830-8316-4FE05CFF4167 Q35198003-CAD86B92-9365-4D62-BAA2-8AC3E9642468 Q35202843-A355E674-75EC-42BB-A8CB-D20BACF15E10 Q35245403-AF9E6492-8AD7-4F1B-99A9-4ECD236DE811 Q35245528-4A6A6294-A24B-43AB-B7D1-C578ADE01C16 Q35247308-19FDC0C4-6377-4961-8D65-CC1AE7B08CE2 Q35250287-8F6E3219-0925-4A06-BA43-5E60F06F9B3A Q35764866-675A8E37-ECF9-4EFF-A853-6724F4202E29 Q35768408-87DEE067-AEF5-4E5E-AE82-121AB4832E52 Q35818334-17386762-A537-4C23-A726-CFF6A7D50BDC Q35853101-D48E5E21-D3C2-4F1E-9C97-D498D41B37F6 Q35882120-7E63330B-CEBE-467F-ADA0-C639086E38F1 Q35882708-5CCBA6D4-62DF-464E-B092-195E41AF715A Q35885011-82B1E550-0329-4B99-A4B5-595453877000 Q35927862-DEBB0CD8-3140-43E2-907A-301FD9D8F5D2 Q36265198-000333D5-980C-452E-823F-7D6CA2D27D15 Q36316914-E21D9F64-13D7-420D-8510-5F99034700B8 Q36414026-0E97221C-D5B3-4D78-8349-8D2844128F5A Q36416602-02F1CC0E-63A1-4E3A-83FA-90317DD762A7 Q36852835-16D177E1-1F13-4EAF-A4AB-8E4BEF981CD7 Q37014569-541C7248-C028-41D8-9DF2-46643438DD7C Q37127693-177CD607-3C4F-4A21-B5FC-678930A7C3FA

P2860

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

http://www.wikidata.org/entity/Q24633620

description

1981 nî lūn-bûn

@nan

1981 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1981 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1981年の論文

@ja

1981年論文

@yue

1981年論文

@zh-hant

1981年論文

@zh-hk

1981年論文

@zh-mo

1981年論文

@zh-tw

1981年论文

@wuu

name

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@ast

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@en

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@nl

type

label

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@ast

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@en

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@nl

prefLabel

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@ast

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@en

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@nl

P1433

Q24633620-ABCBF0D3-519F-4CA9-A4A4-05F6444917C1

P1476

Q24633620-3104FDE4-3C9A-4F22-98DA-5BCF33FA253F

P2093

Q24633620-5044A554-E96D-4B8A-9B62-C599B91F9AFA

Q24633620-80D12986-1C59-4A70-95B3-93FE11759F2A

Q24633620-83E271F9-0111-40D9-BE97-AD42EE6DA79E

Q24633620-92C5E168-BAEF-4FD1-B239-288A1E01D010

Q24633620-CD7FE979-62E8-4FD0-B94E-5AF8806D01FE

Q24633620-EE84DDE3-98AE-4F3C-AA5D-C34690A42336

P2860

Q24633620-15DD36F0-1C68-4045-B4BE-7788A604BB51

Q24633620-4F32FB31-F56D-49D3-800E-7490F0ACF496

Q24633620-70F8B306-FA04-4454-AB24-EFB08A385635

Q24633620-796AC019-640A-40CE-B80F-A575CCED6A57

Q24633620-7C42CD9E-91B0-423E-8610-E59DBCC979FE

Q24633620-7F15D8C5-144E-41EB-8F70-DC42B246D772

Q24633620-7F36360B-D0C0-4B0F-883F-F63FD0827D69

Q24633620-9512D5DD-FA00-4DE6-9AA9-C3B03568098D

Q24633620-AC7ED1D9-FACF-43F7-AE8F-1381C7DCE7F6

Q24633620-BA7CC864-A1E3-423F-A1D2-30DEB200E472

P304

Q24633620-916D9704-16DA-4691-8FC2-EDF398B4BB14

P31

Q24633620-1A6DDB7D-4D95-42CC-A1B9-302AA0AB1C28

P356

Q24633620-BD1DBF48-E5A0-483E-B513-532074143873

P407

Q24633620-08897C02-95E1-4F67-861E-780C387E1221

P433

Q24633620-5E5F6E7D-D8A7-4E7A-BCCC-9A4E49B3C485

P478

Q24633620-B4610EAC-2192-4A6F-924F-B964294F5AA8

P577

Q24633620-A7BD7C87-D828-4D54-A352-F46A2DD205C6

P5875

Q24633620-CE325DA4-ECBA-47E9-A10C-78FA2FE47667

P698

Q24633620-7BB98FD2-A0DE-4A2C-A0AF-17B617194A94

P932

Q24633620-1005242C-596A-469F-8AD0-89699A1CAC95

P356

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Adrenoleukodystrophy: evidence ...... t allele in heterozygous cells

@en

P2093

A B Moser

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

B R Migeon

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

D Sillence

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

H W Moser

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

J Axelman

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

R A Norum

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

P2860

Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.

X-chromosome inactivation and developmental patterns in mammals.

Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.

Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

Adrenoleukodystrophy. A clinical and pathological study of 17 cases.

Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.

Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred.

Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells.

Selection and cell communication as determinants of female phenotype.

P304

5066-70

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

P31

scholarly article

P356

10.1073/PNAS.78.8.5066

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

P407

P433

8

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

P478

78

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

P577

1981-08-01T00:00:00Z

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

P5875

16402639

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

P698

6795626

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

P932

320333

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