Hypermethylation of the MLH1 promoter with concomitant absence of transcript and protein occurs in small patches of crypt cells in unaffected mucosa from sporadic colorectal carcinoma [0.03%]
散发性结肠直肠癌组织中MLH1启动区的高甲基化以及伴随转录和蛋白表达消失现象发生在黏膜隐窝细胞的小部分区域中
Gerard J Nuovo,Hidewaki Nakagawa,Kaisa Sotamaa et al.
Gerard J Nuovo et al.
Hypermethylation of the MLH1 promoter is present in most sporadic colorectal cancers and leads to the abrogation of MLH1 transcription. The significance of the hypermethylation of the promoter that can be detected in rare foci of cells in t...
Genetic alterations (amplification and rearrangement) of D-type cyclins loci in head and neck squamous cell carcinoma of Indian patients: prognostic significance and clinical implications [0.03%]
头颈部鳞状细胞癌中D型周期素基因的遗传学改变（扩增和重组）：预后价值及临床意义
Md Golam Sabbir,Santanu Dasgupta,Anup Roy et al.
Md Golam Sabbir et al.
In this study, the alterations (amplification/rearrangement) of 3 D-type cyclins loci were analyzed by Southern blot in 5 dysplastic head and neck lesions and 79 primary head and neck squamous cell carcinoma (HNSCC) of Indian patients to un...
NM-23 gene loss of heterozygosity and protein expression in high-stage laryngeal squamous cell carcinomas [0.03%]
高分期喉部鳞状细胞癌中NM-23基因杂合性缺失及蛋白表达
Hina Sheikh,Justin Murphy,Jennifer L Hunt
Hina Sheikh
Tumor suppressor genes that reduce metastatic potential have been described in a variety of different tumor types. One of the main tumor metastasis suppressor genes is nm-23, which is a nucleoside diphosphate kinase. Two isotypes, nm-23H1 a...
A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia [0.03%]
Maher Kharrat,Véronique Tardy,Ridha M&#x;rad et al.
Maher Kharrat et al.
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21). In most cases, this defect is the result of gene conversion events between the functional CYP...
Quantitative real-time polymerase chain reaction (RQ-PCR) for the rapid detection of SHOX haploinsufficiency in Leri-Weill Syndrome [0.03%]
Yuen-Ming Tan,Kah-Yin Loke
Yuen-Ming Tan
The short stature homeobox-containing (SHOX) gene, found on the human sex chromosomes, has a role in bone growth and height determination. Haploinsufficiency of the SHOX gene is believed to be responsible for poor growth such as that observ...
Marga Nadal,Guillem Pera,Montserrat Gómez-Zaera et al.
Marga Nadal et al.
Touch preparations or imprints have been extensively used in cytogenetics to avoid primary cultures, especially when studying solid tumors which are hard to grow in vitro. Interphase nuclei studies by FISH have been validated in several sam...
Rapid PCR real-time genotyping of M-Malton alpha1-antitrypsin deficiency alleles by molecular beacons [0.03%]
Germano Orrù,Gavino Faa,Sara Pillai et al.
Germano Orrù et al.
Alpha1-Antitrypsin deficiency is an autosomal codominant inherited disorder, with increased risk of developing lung and liver disease. The large majority of subjects affected by alpha1-antitrypsin deficiency carry the PIZZ or PISZ genotypes...
Correlation of histology, human papillomavirus, and viral load in laryngeal papillomas of childhood [0.03%]
Girishwar Sharma,Jonathan DeHart,Gerard J Nuovo
Girishwar Sharma
The purpose of this study was to analyze 47 laryngeal papillomas in children for human papillomavirus (HPV) DNA by in situ hybridization and RT in situ PCR and to correlate these results with the histologic findings. HPV DNA was detected by...
Real-time quantitative PCR analysis of regions involved in gene amplification reveals gene overdose in low-grade astrocytic gliomas [0.03%]
Dolores Arjona,M Josefa Bello,M Eva Alonso et al.
Dolores Arjona et al.
We have studied gene amplification of genes located in 1q32 (GAC1, ELF3, MDM4, and ren1), 4q11 (PDGFR-alpha), and in 12q13-14 (MDM2 and CDK4) using quantitative real-time PCR in a group of 86 tumors consisting of 44 WHO grade IV glioblastom...
A novel logistic model based on clinicopathological features predicts microsatellite instability in colorectal carcinomas [0.03%]
Anna Colomer,Nadina Erill,August Vidal et al.
Anna Colomer et al.
High-frequency microsatellite instability has been reported to be associated with good prognosis in colorectal adenocarcinoma. However, methods to assess microsatellite instability (MIN) are based on genetic assays and are not ideally suite...