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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B*1502 allele in Thai population
This study seeks to identify whether HLA‐B*1502 is associated with CBZ‐ or phenytoin (PHT)‐induced SJS or MPE in a Thai population.
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
The 16-bp duplication in exon 15 of HPS, which was found only in Puerto Rican patients, is associated with a broad range of pigmentation and an increased risk of restrictive lung disease in adults.
MLL2 and KDM6A mutations in patients with Kabuki syndrome
- N. Miyake, E. Koshimizu, N. Niikawa
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 1 September 2013
High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group, and short stature and postnatal growth retardation were observed in all individuals with KDM 6A mutations, but in only half of the group with M LL2 mutations.
Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip
- V. Shotelersuk, C. Ittiwut, P. Siriwan, A. Angspatt
- Biology, MedicineJournal of medical genetics
- 1 May 2003
A case-control study was carried out to determine whether the two MTHFR polymorphisms in Thai patients with CL/P or their parents were associated with an increased risk of the anomaly.
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
CTNS mutations in an American-based population of cystinosis patients.
- V. Shotelersuk, D. Larson, W. Gahl
- Biology, MedicineAmerican journal of human genetics
- 1 November 1998
Mutation analysis of American-based nephropathic cystinosis patients revealed that homozygotes for the 65-kb deletion and for W138X have average disease, whereas mutations involving the first amino acids prior to transmembrane domains are associated with mild disease.
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects
This new syndrome is the first determined to result from mutation of a gene within the family that encodes nuclear matrix‐attachment region (MAR) proteins, and it is expected to produce a truncated protein predicted to retain its dimerization domain and exert a dominant negative effect.
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
A bacterial artificial chromosome (BAC)-based physical map spanning CTNS was constructed by sequence-tagged site (STS)-content mapping, and sequence analysis detected the presence of a novel gene (CARKL) residing within the most common cystinosis-causing deletion.
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population
The data support that MSX1 mutations are found in 2% of cases of CL/P and should be considered for genetic counseling implications, but suggest that the P147Q variant is not pathogenic.