Search results for: Angel On-Kei Chan

Items from 1 to 8 out of 8 results

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Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease

Yat-Fung Shea, Angel On-Kei Chan, Leung-Wing Chu, Shui-Ching Lee, more

Neurobiology of Aging > 2017 > 50 > C > 168.e9-168.e11

Autosomal dominant familial Alzheimer's disease accounts for 0.5% of all Alzheimer's disease. A familial Alzheimer's disease Chinese family, with 7 affected family members, underwent PSEN1 screening in 3 affected family members. A heterozygous novel missense mutation in the PSEN1 gene c.1156T>A, altering phenylalanine to isoleucine at codon 386, was identified. Because the change occurred in conserved...

article

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences

Yat-Fung Shea, Leung-Wing Chu, Angel On-Kei Chan, Joyce Ha, more

Journal of the Formosan Medical Association > 2016 > 115 > 2 > 67-75

There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients. In this regard, we collected individual-level data from 658 pedigrees. We found that patients with presenilin 1 (PSEN1) mutations had the earliest age...

article

Delayed diagnosis of an old Chinese woman with familial Alzheimer's disease

Yat-Fung Shea, Leung-Wing Chu, Angel On-Kei Chan, Joseph Shiu-Kwong Kwan

Journal of the Formosan Medical Association > 2015 > 114 > 10 > 1020-1021

article

A systematic review of familial Alzheimer’s disease 1991-2014: Asians and worldwide data

Yat Fung Shea, Leung Wing Chu, Angel On-Kei Chan, Joyce Ha, more

Alzheimer's & Dementia: The Journal of the Alzheimer's Association > 2015 > 11 > 7 Supplement > P523

article

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia

Angel On-kei Chan, Wai-man But, Gene Tze-chin Lau, Wing-yee Tse, more

Clinica Chimica Acta > 2006 > 368 > 1-2 > 120-124

Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene.A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her LPL gene was screened by using polymerase chain reaction and direct DNA sequencing.Homozygous missense mutations...

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Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia

Ching-Wan Lam, Ka-Fai Lee, Angel On-Kei Chan, Priscilla Miu-Kuen Poon, more

Clinica Chimica Acta > 2005 > 360 > 1-2 > 167-172

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia resulting from loss-of-function mutations of the CASR (calcium-sensing receptor) gene located on chromosome 3, or from mutations in two mapped but unidentified genes located on chromosome 19.We report a middle-aged woman incidentally found to have FHH. To determine...

article

DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone

Ching-Wan Lam, Angel On-Kei Chan, Sui-Fan Tong, Chi-Chung Shek, more

Clinica Chimica Acta > 2005 > 358 > 1-2 > 55-59

Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis.We used direct DNA sequencing of the THRB gene.We identified a novel missense mutation, I276L, located in exon 8 of the gene. The mutation is located in cluster 3 of...

article

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity

Angel On-Kei Chan, Ching-Wan Lam, Sui-Fan Tong, Cheng Man Tung, more

Clinica Chimica Acta > 2005 > 351 > 1-2 > 155-159

Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene.Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and direct DNA sequencing.Of the four mutations detected, two novel mutations were identified in the...

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Keywords

MUTATION (5)
AUTOSOMAL DOMINANT (2)
FAMILIAL ALZHEIMER'S DISEASE (2)
AMYLOID PRECURSOR PROTEIN (1)
BUTYRYLCHOLINESTERASE (1)
CALCIUM-SENSING RECEPTOR (1)
CASR (1)
CHINESE (1)
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA (1)
GENOTYPE (1)
HYPERCHYLOMICRONEMIA (1)
HYPERTRIGLYCERIDEMIA (1)
LIPOPROTEIN LIPASE DEFICIENCY (1)
LPL GENE (1)
PHENOTYPE (1)
PRESENILIN 1 (1)
PRESENILIN-1 (1)
PRESENILIN-2 (1)
RESISTANCE TO THYROID HORMONE (1)
THYROID HORMONE RECEPTOR BETA (1)
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