Results 61 to 70 of about 212 (100)

Epidemiology of common allergic diseases in China: Current position and implications

Eye &ENT Research, Volume 2, Issue 2, Page 77-87, June 2025.
Abstract The prevalence of common allergic diseases, including allergic rhinitis, asthma, atopic dermatitis, and food allergy, has increased dramatically with rising industrialization in China, leading to a significant socio‐economic burden.
Xu Xu, Chengshuo Wang, Luo Zhang, Jingyun Li, Yuan Zhang   +4 more
wiley   +1 more source

Additional file 4 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

, 2021
Additional file 4: Supplemental Table 1a and b.
Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad   +13 more
openaire   +1 more source

Causal Exposures in Pancreatic Cancer Incidence: Insights From Mendelian Randomization Studies

JGH Open, Volume 9, Issue 2, February 2025.
ABSTRACT Aim Pancreatic cancer, marked by its high lethality and poor 5‐year survival rate, requires a thorough understanding of its risk factors and etiological mechanisms. In this review, we collected the latest findings from Mendelian randomization (MR) studies to identify potential causal factors for pancreatic cancer.
Ashraf Mohamadkhani, Reza Ghanbari, Ramin Shakeri, Mohammad Ali Mohammadkhani, Akram Pourshams   +4 more
wiley   +1 more source

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events

Clinical Genetics, Volume 107, Issue 2, Page 179-187, February 2025.
A hypomorphic PIGM promoter variant has been previously associated with absence seizures, intellectual disability (ID) and portal and cerebral vein thrombosis, in seven patients to date. We report three siblings affected with early‐onset generalized intractable epilepsy, ID and behavioral problems, found to harbor a coding c.224G>A missense variant in ...
Gali Heimer, Ben Pode‐Shakked, Dina Marek‐Yagel, Helly Vernitsky, Michal Tzadok, Ortal Barel, Eran Eyal, Bruria Ben‐Zeev, Gil Atzmon, Yair Anikster   +9 more
wiley   +1 more source

Epigenetic and Immune Profile Characteristics in Sinonasal Undifferentiated Carcinoma

Cancer Medicine, Volume 13, Issue 22, November 2024.
Using spatial transcriptome analysis, evaluation of the epigenetic mechanisms in sinonasal undifferentiated carcinoma. ABSTRACT Introduction Sinonasal undifferentiated carcinoma (SNUC) is a rare and highly aggressive malignancy originating in the nasal cavity and paranasal sinuses.
Hyang Joo Ryu, Chung Lee, Sun Och Yoon
wiley   +1 more source

Genomic insights into Rett syndrome-like features in Bangladeshi participants

Genetics in Medicine Open
Purpose: Rett syndrome (RTT) is a neurological disorder marked by the loss of developmental milestones. Classic RTT involves variants in the methyl-CpG-binding protein 2 (MECP2) gene.
Hosneara Akter, Muhammad Mizanur Rahman, Rabeya Akter Mim, Atikur Rahaman, Md., Tamannyat Binte Eshaque, Syed Akib Hossain, Athoi Ganguly, Farjana Binta Omar, Masuma Afrin Taniya, Nahid Hasan, Md., Amirul Islam, Bassam Jamalalail, Nasna Nassir, Binte Zehra, Shaoli Sarker, K.M. Furkan Uddin, A.H.M. Nurun Nabi, Marc Woodbury-Smith, Mohammed Uddin   +18 more
doaj   +1 more source

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum

, 2019
Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability ...
Taskiran, EZ, Akgün, Doğan, Kosukcu, CAN, Boduroğlu, K, Alikaşifoğlu, M, Utine, GE, Demir, GÜ, Simsek-Kiper, PÖ   +7 more
core   +1 more source

Transcriptome‐wide gene expression outlier analysis pinpoints therapeutic vulnerabilities in colorectal cancer

Molecular Oncology, Volume 18, Issue 6, Page 1460-1485, June 2024.
Multi‐omics data were obtained for 226 CRC cell lines. Extreme positive and negative gene expression outliers were identified from RNA‐seq data using a novel computational workflow. Gene expression abnormalities were subsequently associated with (epi)genetic alterations.
Elisa Mariella, Gaia Grasso, Martina Miotto, Kristi Buzo, Nicole Megan Reilly, Pietro Andrei, Pietro Paolo Vitiello, Giovanni Crisafulli, Sabrina Arena, Giuseppe Rospo, Giorgio Corti, Annalisa Lorenzato, Carlotta Cancelliere, Ludovic Barault, Giulia Gionfriddo, Michael Linnebacher, Mariangela Russo, Federica Di Nicolantonio, Alberto Bardelli   +18 more
wiley   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Defining the relationship between cellular and extracellular vesicle (EV) content in breast cancer via an integrative multi‐omic analysis

PROTEOMICS, Volume 24, Issue 11, June 2024.
Abstract Much recent research has been dedicated to exploring the utility of extracellular vesicles (EVs) as circulating disease biomarkers. Underpinning this work is the assumption that the molecular cargo of EVs directly reflects the originating cell. Few attempts have been made, however, to empirically validate this on the ‐omic level.
Rebecca E. Lane, Darren Korbie, Kum Kum Khanna, Ahmed Mohamed, Michelle M. Hill, Matt Trau   +5 more
wiley   +1 more source