Jianying Liang

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Many European groups have recently described that mutations at exon-12 of the nucleophosmin (NPM1) gene are the most frequent genetic lesion in patients with acute myeloid leukemia (AML), especially in the presence of a normal karyotype. This study explored the prevalence and clinical profile of NPM1 mutations in a cohort of 156 Chinese adults with AML.(More)
BACKGROUND Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare congenital disorder. Missense mutations in the membrane-bound transcription factor protease, site 2 (MBTPS2) gene have recently been identified in patients with IFAP. OBJECTIVE To determine whether Chinese patients with IFAP have MBTPS2 mutations. METHODS We observed(More)
The intestinal absorptive characteristics and the efflux mechanisms of candesartan (CDS), a novel angiotensin II type 1 receptor blocker, were investigated. The Caco-2 cells were used as models of the intestinal mucosa to assess uptake and transport of CDS. The determination of CDS was performed by HPLC-Flu. In the Caco-2 cells, the uptake and absorptive(More)
A new method employing HPLC, LC-MS, liposomes and cell membranes for the screening of bioactive compounds in traditional Chinese medicines (TCMs) has been proposed. We hypothesized that exposure of the TCM extracts to liposome membranes or cell membranes should decrease the concentration of membrane-permeable compounds in the solution. Using this approach,(More)
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreover,(More)
As a component of the MRN complex (which is a heterotrimeric protein complex consisting of MRE11, RAD50 and NBS1), NBS1 plays an important role in cellular response to DNA damage and the maintenance of chromosomal integrity. Leukemia is common in NBS1 germ line-mutated patients. The NBS1 E185Q polymorphism (8360G>C, rs1805794) has been frequently studied in(More)
Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity. Loss-of-function mutations of keratin 5(More)
Human leukemia cell lines are powerful tools in the study of leukemogenesis, particularly for rare but recurrent subtypes such as acute myeloid leukemia (AML) with the t(16;21)(p11.2;q22) and FUS-ERG fusion. Four AML cell lines carrying a t(16;21)(p11.2;q22) have been described previously. We report a novel AML cell line, designated JIH-4, for which(More)
Atopic dermatitis (AD) is an inflammatory, chronically relapsing, pruritic skin disease and lesions associated with AD are frequently colonized with Staphylococcus aureus (S. aureus). Activation of T cells by staphylococcal enterotoxins (SE) plays a crucial role in the pathogenesis of AD. Previous studies have demonstrated that lidocaine could attenuate(More)