Results 231 to 240 of about 860,476 (247)

Correction: MEIS1 knockdown upregulates WNT signaling pathway genes in esophageal squamous cell carcinoma. [PDF]

BMC Med Genomics
Hosseini N, Forghanifard MM.
europepmc   +1 more source

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

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Correction: Exploring the prognostic landscape of oral squamous cell carcinoma through mitochondrial damage-related genes. [PDF]

BMC Med Genomics
Wen W, Li R, Wang D, Chai L.
europepmc   +1 more source

Dental genomics in Africa: colonial legacies and research gaps. [PDF]

Front Oral Health
Kabbashi S, Roomaney IA, Chetty M.
europepmc   +1 more source

Special Issue "Influenza Viruses: Infection and Genomics". [PDF]

Int J Mol Sci
Focosi D.
europepmc   +1 more source

Correction: Integrating genomics and transcriptomics reveals candidate genes affecting loin muscle area in Huaxi cattle. [PDF]

PLoS One
Xue Q, Du L, Deng T, Liang M, Li K, Qian L, Qiu S, Chen Y, Gao X, Xu L, Wang Z, Zheng C, Zhang L, Li J, Gao H.   +14 more
europepmc   +1 more source

Harnessing Genomic and Bioinformatics for Surveillance of Pathogens in Africa: A Scoping Review of Existing Training and Gaps in Training

Kingpriest P, Bok J, Lompo P, Ngelesi E, Mwaka J, Ndure SL, Moremi N, Baraka V, Bossche TVD, Bombaywala S, Mesuere B, Martens L, Lang T.   +12 more
europepmc   +1 more source