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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
TLDR
Investigation of the effect of knockdown or mutations of RSPH9 orthologs in zebrafish and Chlamydomonas indicate that radial spoke head proteins are important in maintaining normal movement in motile, "9+2"-structure cilia and flagella. Expand
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
TLDR
It is shown that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome and that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome. Expand
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
TLDR
Data not only show that NDUFAF3 mutations cause complex I deficiency but also relate different complex I disease genes by the close cooperation of their encoded proteins during the assembly process. Expand
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
TLDR
It is confirmed that Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the COL2A1 gene as >90% of the mutations were predicted to result in nonsense-mediated decay. Expand
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
TLDR
Findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness to Harboyan syndrome. Expand
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.
TLDR
The de novo occurrence of a novel SPG3A mutation is reported in a subject with childhood-onset, nonprogressive, spastic diplegia who had no previous family history of hereditary spastic paraplegia until the birth of her similarly affected son. Expand
Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.
TLDR
5 patients, with karyotypic abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental retardation, prominent forehead, deep-set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears are described. Expand
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene
TLDR
The mutation described in this report further expands the clinical spectrum of PROM1 mutations and is characterized by severe visual impairment evident in the first decade of life. Expand
Congenital myopathy is caused by mutation of HACD1
TLDR
It is suggested that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. Expand
Glu274Lys/Gly309Arg Mutation of the Tissue-Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions
TLDR
Phenotype/genotype correlation indicates that G309R is a deleterious mutation that can lead to seizures and a lethal outcome, as was demonstrated in a patient diagnosed with lethal perinatal hypophosphatasia. Expand
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