Results 111 to 120 of about 2,142,199 (296)

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Detection of High-Risk Human Papillomavirus in Oral Cavity Squamous Cell Carcinoma Using Multiple Analytes and Their Role in Patient Survival

Journal of Global Oncology, 2018
Purpose: Accurate detection of human papillomavirus (HPV) in oral cavity squamous cell carcinoma (OSCC) is essential to understanding the role of HPV in disease prognosis and management of patients.
Vinayak Palve, Jamir Bagwan, Neeraja M. Krishnan, Manisha Pareek, Udita Chandola, Amritha Suresh, Gangotri Siddappa, Bonney L. James, Vikram Kekatpure, Moni Abraham Kuriakose, Binay Panda   +10 more
doaj   +1 more source

A systematic review of hypermethylation of p16 gene in esophageal cancer

Cancer Biomarkers, 2013
Background: Inactivation of cell-cycle regulating gene p16, resulting from epigenetic alteration, is common in the carcinogenesis of human cancers. The aim of this study is to offer a systematic review on the aberrant methylation of p16 gene in esophageal cancer. Methods: We performed a meta-analysis referring to the guidelines of PRISMA.
Xu, Ruobing, Wang, Fengliang, Wu, Liang, Wang, Jianming, Lu, Cheng   +4 more
openaire   +2 more sources

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Aberrant promoter hypermethylation of p16 gene in endometrial carcinoma

Tumor Biology, 2015
Previous studies demonstrated that the loss of function of the p16INK4A gene is mainly caused by the hypermethylation of p16 gene promoter; however, whether or not it is associated with the incidence of endometrial carcinoma (EC) remains unclear.
Zhuo-ying, Hu, Liang-dan, Tang, Qin, Zhou, Lin, Xiao, Yi, Cao   +4 more
openaire   +2 more sources

From Cognitive Processing to Daily Functioning: Language, Visuomotor Integration, and Adaptive Behavior in Children With Coffin‐Siris Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Studying Mendelian neurodevelopmental disorders (NDDs) from a bottom‐up perspective, in which neurocognitive functioning is conceptualized as a mediator between genotype and behavioral phenotype, may facilitate early identification of syndrome‐specific vulnerabilities.
Myrthe R. M. Kamphof, Sophie van Rijn, Gijs W. E. Santen, Hanna Swaab   +3 more
wiley   +1 more source

Helicobacter pylori Eradication Modulates Aberrant CpG Island Hypermethylation in Gastric Carcinogenesis

The Korean Journal of Gastroenterology, 2016
Background : /Aims: Helicobacter pylori infection induces aberrant DNA methylation in gastric mucosa. We evaluated the long-term effect of H. pylori eradication on promotor CpG island hypermethylation in gastric carcinogenesis. Methods : : H.
Jeongmin Choi, Sang Gyun Kim, Byeong Gwan Kim, Seong-Joon Koh, Ji Won Kim, Kook Lae Lee   +5 more
doaj   +1 more source

Frequent abnormalities of the P15 and P16 genes in mycosis fungoides and Sezary syndrome

, 2002
There are few data on the molecular pathogenesis of cutaneous T cell lymphomas. A recent allelotyping study by our group identified frequent allelic loss on 9p, 10q, and 17p including losses on 9p21 in 16% of patients with mycosis fungoides and 46% with ...
Russell-Jones, R, Scarisbrick, J J, Woolford, A J, Photiou, A, Orchard, G, Ferreira, S, Calonje, E, Whittaker, S J   +7 more
core   +1 more source

Biomimetic Nanomedicine for Aging‐Impaired Bone Regeneration: From Microenvironmental Dysfunction to Precision Therapeutics

Advanced NanoBiomed Research, EarlyView.
Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang, He Zhang, Simo Liu, Rui Wang, Yiran Wei, Kailu Zheng, Yanming Guo, Min Li, Dian Yuan, Yuxin Liu, Lifang Feng, Yongping Ma, Yan Liu   +12 more
wiley   +1 more source

Antitumour effects of artesunate via cell cycle checkpoint controls in human oesophageal squamous carcinoma cells

European Journal of Medical Research
Artesunate (ART), an effective antimalarial semisynthetic derivative of artemisinin, exhibits antitumour properties, but the mechanism(s) involved remain elusive.
Linlin Mao, Guodong Deng, Mengfan Li, Shih-Hsin Lu, Wei Jiang, Xiying Yu   +5 more
doaj   +1 more source