Results 71 to 80 of about 19,235 (265)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Compound Heterozygosity for Y Box Proteins Causes Sterility Due to Loss of Translational Repression. [PDF]

PLoS Genetics, 2015
The Y-box proteins YBX2 and YBX3 bind RNA and DNA and are required for metazoan development and fertility. However, possible functional redundancy between YBX2 and YBX3 has prevented elucidation of their molecular function as RNA masking proteins and ...
Elizabeth Snyder, Ramani Soundararajan, Manju Sharma, Andrea Dearth, Benjamin Smith, Robert E Braun   +5 more
doaj   +1 more source

Compound Heterozygosity of the GPIbα Gene Associated with Bernard-Soulier Syndrome

Thrombosis and Haemostasis, 2001
SummaryWe report the molecular genetic analysis of the Bernard-Soulier syndrome (BSS) phenotype in two related patients showing absence of glycoprotein (GP) Ibα and detectable amounts of GPIX on the platelet surface, and a truncated form of GPIbα in solubilized platelets and plasma.
González-Manchón, Consuelo, Larrucea, Susana, Pastor, Angela L., Butta, Nora, García Arias-Salgado, Elena, Sánchez Ayuso, Matilde, Parrilla, Roberto L.   +6 more
openaire   +3 more sources

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

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

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

Cell Genomics
Summary: The phenotypic impact of compound heterozygous (CH) variation has not been investigated at the population scale. We phased rare variants (MAF ∼0.001%) in the UK Biobank (UKBB) exome-sequencing data to characterize recessive effects in 175,587 ...
Frederik H. Lassen, Samvida S. Venkatesh, Nikolas Baya, Barney Hill, Wei Zhou, Alex Bloemendal, Benjamin M. Neale, Benedikt M. Kessler, Nicola Whiffin, Cecilia M. Lindgren, Duncan S. Palmer   +10 more
doaj   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Compound heterozygous KCTD19 variants in a man with isolated nonobstructive azoospermia

Reproductive Medicine and Biology
Case A 40‐year‐old Japanese man with nonobstructive azoospermia (NOA) was found to carry rare variants in KCTD19, a newly identified causative gene for spermatogenic failure. This patient was identified through mutation screening of KCTD19 in 97 men with
Yuki Muranishi, Yuko Katoh‐Fukui, Atsushi Hattori, Yoshitomo Kobori, Akiyoshi Osaka, Hiroshi Okada, Toshiyuki Iwahata, Masafumi Kon, Nobuo Shinohara, Maki Fukami   +9 more
doaj   +1 more source

Coronary artery bypass grafting in a 14-year-old boy with compound heterozygous LDLR familial hypercholesterolemia: a case report

Frontiers in Pediatrics
Familial hypercholesterolemia (FH), particularly homozygous or compound heterozygous forms, predisposes individuals to premature cardiovascular disease due to severely elevated low-density lipoprotein cholesterol (LDL-C).
Ke Zhu, Fuqiang Zhang, Jin Wang, Chunjing Li   +3 more
doaj   +1 more source

Targeting tumor vulnerabilities associated with loss of heterozygosity

Molecular & Cellular Oncology, 2020
We show that N-acetyltransferase 2 (NAT2) loss of heterozygosity can be targeted in >4% of colorectal cancers with the use of a small molecule. We identify and describe the effect of a compound that impairs the growth of colorectal tumors with slow NAT2 ...
Veronica Rendo, Ivaylo Stoimenov, Tobias Sjöblom   +2 more
doaj   +1 more source