Results 151 to 160 of about 61,249 (214)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Clinical Impact of HLA-B27 on Juvenile Idiopathic Arthritis: Eighteen Years of Follow-up in the Population-Based Nordic Juvenile Idiopathic Arthritis Cohort. [PDF]

ACR Open Rheumatol
Ekelund M, Szentpetery A, Arnstad ED, Aalto K, Fasth A, Glerup M, Herlin T, Myrup C, Nordal E, Peltoniemi S, Rygg M, Rypdal V, Berntson L.   +12 more
europepmc   +1 more source

Europe and Generational Replacement in Fishing: Analysis of the Scarcity of Studies and Proposals for Future Lines of Research

Fish and Fisheries, Volume 27, Issue 3, Page 555-570, May 2026.
ABSTRACT The fishing sector is facing a major crisis, usually addressed from an economic and/or environmental perspective. However, at least in developed countries, the ageing of fishers and the lack of generational replacement is one of the main challenges to its survival. Although the sector has been calling for this problem to be addressed, there is
Andrea Márquez‐Escamilla, Meritxell Maimi‐Checa, Paloma Herrera‐Racionero, Lluís Miret‐Pastor   +3 more
wiley   +1 more source

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis. [PDF]

Hum Genomics
Safka Brozkova D, Paulasova Schwabova J, Vyhnalkova E, Lassuthova P, Musilova A, Novotna L, Vasova J, Uhrova Meszarosova A.   +7 more
europepmc   +1 more source

Dysregulation of CD39/Ectonucleoside Triphosphate Diphosphohydrolase 1 Causes Urinary Bladder Dysfunction with Abnormal Smooth Muscle Contractility

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Abnormal extracellular ATP levels cause lower urinary tract symptoms (LUTS). Here, we demonstrate that overexpression of ENTPD1 (CD39TG)—an ATP/ADP converting enzyme—reduces voiding frequency while increasing void volume. Conversely, ENTPD1 deficiency results in frequent, small‐volume voiding.
Zhaobo Luo, Huan Chen, Ali Wu, Weipu Mao, Sagar Barge, Seth L. Alper, Simon C. Robson, Weiqun Yu   +7 more
wiley   +1 more source

Sown Without Care: Dutch Eugenicists and their Call for Optimising Developmental Conditions, 1919-1939. [PDF]

Soc Hist Med
van der Meer M.
europepmc   +1 more source

A 3D Bioprinted Spheroid‐Laden dECM‐Enriched Osteosarcoma Model for Enhanced Drug Testing and Therapeutic Discovery

Advanced Healthcare Materials, Volume 15, Issue 15, 17 April 2026.
A 3D biomimetic OS model was developed by bioprinting an OS‐cell‐derived dECM‐enriched bioink with OS spheroids incorporated. The model showed upregulation of known OS prognostic markers and increased resistance to doxorubicin, compared to 2D cultures and scaffold‐free spheroids, making this a more clinically relevant platform for drug discovery ...
Margarida F. Domingues, Maria Catarina Carreira, Mafalda S. Santos, Daniela Pacheco, Frederico Castelo Ferreira, Paola Sanjuan‐Alberte, João Carlos Silva   +6 more
wiley   +1 more source

Three-Dimensional Diagnosis and Surgical Management of Impacted Maxillary and Mandibular Canines in Pediatric Patients: A Case Series. [PDF]

Sage Open Pediatr
Victory-Rodríguez G, Ruiz-Gutiérrez AC, Muro-Jiménez ML, Varela-Hernández JJ, Gutiérrez-Maldonado AF, Landero-Álvarez MF, Alarcón-Sánchez MA, Heboyan A, Lomelí-Martínez SM.   +8 more
europepmc   +1 more source

Life on Mars? The physiological perspective

Experimental Physiology, EarlyView.
Ronan M. G. Berg, Damian M. Bailey
wiley   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, Volume 38, Issue 22, 17 April 2026.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source