Results 261 to 270 of about 178,485 (305)

Exploration of Therapeutic Targets Using CDK4 Inhibitors for Head and Neck Mucosal Melanoma

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Mucosal melanoma (MM) is an extremely aggressive malignant tumor in the head and neck region associated with a poor prognosis. In the present study, we conducted cell proliferation assay and western blotting using cell lines derived from MM and the immunohistochemical analysis of pathological MM tissues to identify novel therapeutic ...
Takayoshi Hattori, Makiko Fujii, Tsutomu Ueda, Akira Ishikawa, Yuichi Mine, Bingwen Xu, Tomoya Suehiro, Minoru Hattori, Hiroaki Tahara, Yuki Sato, Nobuyuki Chikuie, Takayuki Taruya, Takao Hamamoto, Takashi Ishino, Sachio Takeno   +14 more
wiley   +1 more source

Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing. [PDF]

BMC Med Genomics
Khan H, Zahid M, Shabbir MI, Ahmed A, Khan B, Kiyani MM, Abualait T, Bashir S, Li HT.   +8 more
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing. [PDF]

Diagnostics (Basel)
Tu LT, Lien NTK, Tung NV, Van DTH, Nga VQ, Tho NT, Hien NT, Duc NM, Hoang NH.   +8 more
europepmc   +1 more source

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Whole exome sequencing and single-cell DNA sequencing for assessment of clonal heterogeneity and evolution in acute myeloid leukemia. [PDF]

Comput Struct Biotechnol J
Adhikari S, Eldfors S, Pitkänen E, Vähä-Koskela M, Heckman CA.   +4 more
europepmc   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Whole-exome sequencing study of opioid dependence offers novel insights into the contributions of exome variants. [PDF]

Transl Psychiatry
Wang L, Nuñez YZ, Martínez-Magaña JJ, Rivera-Hernandez M, Mao Z, Brennand KJ, Montalvo-Ortiz JL, Kranzler HR, Gelernter J, Zhou H.   +9 more
europepmc   +1 more source