Results 271 to 280 of about 299,286 (332)

The molecular cartography of malignant and benign sebaceous tumours. [PDF]

Nat Commun
Ferreira I, Rueda OM, van der Weyden L, Sahni S, Cast O, Wong K, Del Castillo Velasco-Herrera M, Caldwell H, Boccacino JM, Alegbe T, Mehta I, Gunjur A, Gupta P, Harle V, Koga K, Matzusaki I, Fujimoto M, Wiedemeyer K, Stratigos A, Oniscu A, Wang K, Ruppin E, Demetter P, Frayling IM, Arends MJ, Brenn T, Adams DJ.   +26 more
europepmc   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Posttransplantation clonal dynamics of hematopoietic stem cells carrying prenatal and early-life <i>DNMT3A</i> mutations. [PDF]

Hemasphere
Derks LLM, Müskens KF, van Roosmalen MJ, de Graaf AO, Epskamp N, Trabut L, Hagelaar R, Jansen JH, Lindemans CA, van Bergen MGJM, van Boxtel R, Belderbos ME.   +11 more
europepmc   +1 more source

Mutational analysis of simian virus 40 large T antigen DNA binding sites.

, 1984
Katherine A. Jones, R Myers, Robert Tjian   +2 more
openalex   +2 more sources

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Single-cell analysis of the somatic mutational landscape in human chondrocytes during aging and in osteoarthritis. [PDF]

Nat Aging
Ren P, Zheng C, Pang Y, Qiang Y, Sun S, Wang Q, Xu W, Lee M, Lu Z, Zhou M, He J, Liu N, Maslov AY, Dong X, Zhang C, Gao J, Vijg J.   +16 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Pan-cancer profiling links C1orf50 to DNA repair and immune modulation in ovarian cancer. [PDF]

J Ovarian Res
Rogachevskaya A, Otani Y, Ohtsu A, Chin VD, Peña T, Arai S, Toyooka S, Fujimura A, Tanaka A.   +8 more
europepmc   +1 more source

DNA sequence analysis of the dnaK gene of Escherichia coli B and of two dnaK genes carrying the temperature-sensitive mutations dnaK7(Ts) and dnaK756(Ts)

, 1992
Toshitsugu Miyazaki, Seiji Tanaka, Hiroshi Fujita, H Itikawa   +3 more
openalex   +2 more sources

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source