(Q56998085)

4

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Antonio Balsamo

object named as

A Balsamo

A. Balsamo

3

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author name string

M Barbaro

1

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L Baldazzi

2

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T Robins

5

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L Barp

6

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P Pirazzoli

7

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E Cacciari

8

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A Cicognani

9

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A Wedell

10

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M. Barbaro

1

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L. Baldazzi

2

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T. Robins

5

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L. Barp

6

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P. Pirazzoli

7

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E. Cacciari

8

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A. Cicognani

9

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A. Wedell

Journal of Molecular Medicine

10

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language of work or name

English

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publication date

June 2006

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16 March 2006

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published in

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volume

84

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issue

6

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page(s)

521-8

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521-528

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cites work

The common I172N mutation causes conformational change of cytochrome P450c21 revealed by systematic mutation, kinetic, and structural studies

1 reference

12 December 2020

CYP21 mutations in simple virilizing congenital adrenal hyperplasia

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12 December 2020

Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

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12 December 2020

Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore

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12 December 2020

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

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12 December 2020

Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus

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12 December 2020

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions

1 reference

12 December 2020

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

1 reference

12 December 2020

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

1 reference

12 December 2020

The structure of human microsomal cytochrome P450 3A4 determined by X-ray crystallography to 2.05-A resolution

1 reference

12 December 2020

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation

1 reference

12 December 2020

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

1 reference

12 December 2020

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia

1 reference

12 December 2020

Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese

1 reference

12 December 2020

A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population

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12 December 2020

Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia

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12 December 2020

Crystal structure of human cytochrome P450 2C9 with bound warfarin

1 reference

12 December 2020

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management

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12 December 2020

Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

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12 December 2020

Functional interaction of cytochrome P450 with its redox partners: a critical assessment and update of the topology of predicted contact regions

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12 December 2020

Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency

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12 December 2020

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

The structure of microsomal cytochrome P450 2C5: a steroid and drug metabolizing enzyme

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12 December 2020

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

An open conformation of mammalian cytochrome P450 2B4 at 1.6-Å resolution

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12 December 2020

Human Gene Mutation Database (HGMD): 2003 update

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12 December 2020

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation

1 reference

12 December 2020

Structure of human microsomal cytochrome P450 2C8. Evidence for a peripheral fatty acid binding site

1 reference

12 December 2020

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

1 reference

12 December 2020

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

12 December 2020