Results 191 to 200 of about 114,077 (305)

Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases. [PDF]

Mol Neurobiol
Wakil SM, Morisaki K, Shen PH, Sucich DG, Schwandt M, Hejtmancik JF, Marietta C, Yuan Q, Diazgranados N, Hodgkinson CA, Goldman D.   +10 more
europepmc   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes. [PDF]

Nature
Zou XZ, Hu F, Lou H, Burren OS, Li X, Megy K, Wheeler E, Wu Q, Atanur SS, Karpinski M, Loesch D, Fairhurst-Hunter Z, Deevi SVV, Oerton E, Wen S, Jiang X, Salvoro C, Mitchell J, Nag A, Hollis B, O'Neill A, AstraZeneca Genomics Initiative, Harrow J, MacArthur S, Wasilewski S, O'Dell S, Tian L, Smith KR, Del Angel G, Fabre M, Dhindsa RS, Wang Q, Petrovski S, Carss K.   +33 more
europepmc   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Mapping malignant T‐cell states and immune circuits in Sézary syndrome by single‐cell analysis

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Peripheral blood single‐cell RNA‐seq from leukaemic CTCL defined three malignant T‐cell programmes: MTC CM, MTC Reg and MTC E/EM, each with distinct features and candidate vulnerabilities. For example, inferred immune circuits highlighted actionable IL‐10/JAK–TYK2–STAT3 signalling, KIR–MHC I inhibitory interactions and myeloid/B‐cell inflammatory and ...
Beth A. Childs, Eslam A. Elghonaimy, Praveen Ramakrishnan Geethakumari, Kiran A. Kumar, Joseph F. Merola, Heather W. Goff, Todd A. Aguilera   +6 more
wiley   +1 more source

Choroidal Vascular Findings in a Case of Multifocal Geographic Atrophy: A Clinicopathologic Correlation. [PDF]

Invest Ophthalmol Vis Sci
McLeod DS, Bhutto IA, Messinger JD, Berlin A, Grebe R, Bijon J, Freund KB, Curcio CA, Edwards MM.   +8 more
europepmc   +1 more source

Pangenome analysis reveals the genetic mechanism underlying high‐altitude adaptation in Qinghai–Xizang (Tibet) Plateau Rhododendron

Journal of Integrative Plant Biology, EarlyView.
Pan‐genome analysis reveals that high‐altitude Rhododendron species resist alpine cold stress by rapidly sensing and engaging the chilling response pathway and genes that directly and indirectly protect the plant from UV radiation. Heritable genomic features such as long terminal repeats contribute to the adaptive diversification of Rhododendron ...
Haoyang Zhou, Zhongping Xu, Fanhuang Zeng, Haiyu Sang, Zhenhua Liu, Miao Sun, Qiang Fu, Kaige Zhao, Daming Tan, Manzhu Bao, Shuangxia Jin, Xiuqun Liu   +11 more
wiley   +1 more source

Nintedanib Eye Drops Inhibit Alkali Burn-Induced Corneal Neovascularization Via RAP1/MEK/ERK Signaling Pathway. [PDF]

Invest Ophthalmol Vis Sci
Li J, Zhang G, Li J, Liu R, Zhu L, Li J, Li Z.   +6 more
europepmc   +1 more source

Development and Validation of a Cross‐Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Advances in genomics have resulted in a rapid expansion of the number of known rare genetic disorders (RGDs). However, the low frequency of RGDs presents a challenge for accurately describing the phenotypic spectrum of a given disorder. Remote phenotyping strategies are uniquely poised to address this knowledge gap.
R. M. Pollak, E. Sefik, C. Klaiman, M. K. Harner, D. V. Bishop, J. R. Purcell, T. Irving, C. A. Saulnier, S. Pulver, J. F. Cubells, E. F. Walker, M. M. Murphy, J. G. Mulle   +12 more
wiley   +1 more source

Targeting CDH13 as a therapeutic strategy to mitigate pathological ocular angiogenesis. [PDF]

J Transl Med
Yin W, Xu M, Niu Z, Gao Y, Su N, Song Y, Liu Q.   +6 more
europepmc   +1 more source