GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
|
12215968 |
2002 |
GRACILE SYNDROME (disorder)
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
|
12215968 |
2002 |
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
|
12215968 |
2002 |
GRACILE SYNDROME (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
|
12215968 |
2002 |
GRACILE SYNDROME (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
|
11528392 |
2001 |
GRACILE SYNDROME (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
|
9878253 |
1998 |
GRACILE SYNDROME (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.
|
9792866 |
1998 |
GRACILE SYNDROME (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
GRACILE SYNDROME (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.
|
28105683 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L.
|
28322498 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
|
28322498 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
The TYMS 6bp ins/del and 6bp del/del genotype was associated with low birth weight (LBW) compared to 6bp ins/ins genotype in both term and PTD groups, and in case of very (p=0.024) and moderately (p=0.045) sub-cohorts of PTD significantly.
|
28627444 |
2017 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
|
25895478 |
2015 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
BEFREE |
BCS1L is the causative gene of Björnstad syndrome, which is characterized by sensorineural hearing loss and pili torti.
|
25895478 |
2015 |
Pili torti-deafness syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
|
24236502 |
2014 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
Biomarker
|
disease |
CLINGEN |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
|
24172246 |
2013 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
|
19389488 |
2009 |
Pili torti-deafness syndrome
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |
Pili torti-deafness syndrome
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
|
17314340 |
2007 |