Condition: Holocarboxylase Synthetase Deficiency


rs1057516035 in HLCS gene and Holocarboxylase Synthetase Deficiency PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 12633764 2003 A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

PMID 21894551 2012 A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.

PMID 16134170 2005 Mutations in the holocarboxylase synthetase gene HLCS.

PMID 10590022 1999 Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

PMID 20095979 2010 Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

PMID 10190325 1999 Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

PMID 12124727 2002 Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

PMID 8541348 1995 Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

PMID 7842009 1994 Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

PMID 11735028 2001 Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

PMID 9396568 1997 Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

PMID 8817339 1996 Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

PMID 25690727 2015 Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

PMID 10068510 1999 Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.

PMID 19157941 2009 N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition.

PMID 9870216 1998 Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.

PMID 16231399 2005 First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.

PMID 11185745 2000 Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.

PMID 20026029 2010 The polypeptide Syn67 interacts physically with human holocarboxylase synthetase, but is not a target for biotinylation.

PMID 21874615 2012 The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.

PMID 24239178 2014 Holocarboxylase synthetase acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7.

PMID 18974016 2008 Management of a patient with holocarboxylase synthetase deficiency.

PMID 27114915 2016 Holocarboxylase synthetase deficiency pre and post newborn screening.

PMID 11124959 2001 Expression in Escherichia coli of N- and C-terminally deleted human holocarboxylase synthetase. Influence of the N-terminus on biotinylation and identification of a minimum functional protein.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 18429047 2008 The molecular basis for the HLCS deficiency was further investigated by characterisation of the p.L216R protein.

PMID 22027809 2012 Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.

PMID 24085707 2014 Biochemical profiles were consistent with HLCS deficiency, and genetic analysis confirmed homozygosity for the L216R mutation.

PMID 10653324 2000 Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.

PMID 24215330 2013 Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

PMID 19695181 2009 [Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].