Results 201 to 210 of about 1,210,893 (313)

Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References. [PDF]

Annu Rev Genomics Hum Genet
Taylor DJ, Eizenga JM, Li Q, Das A, Jenike KM, Kenny EE, Miga KH, Monlong J, McCoy RC, Paten B, Schatz MC.   +10 more
europepmc   +1 more source

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

P618: Misuse of opportunistic screening highlights shortcomings in clinical ascertainment

Genetics in Medicine Open
Julie Sapp, Leslie Biesecker, Jennifer Johnston, Katie Lewis   +3 more
doaj   +1 more source

Advanced analysis of retrotransposon variation in the human genome with nanopore sequencing using RetroInspector. [PDF]

Sci Rep
Cuenca-Guardiola J, de la Morena-Barrio B, Corral J, Fernández-Breis JT.   +3 more
europepmc   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Prediction of target genes and functional types of cis-regulatory modules in the human genome reveals their distinct properties. [PDF]

BMC Biol
Yuan S, Ni P, Su Z.
europepmc   +1 more source

Custom scripts used in the study "Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome"

, 2020
Cai Li
openalex   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

The 1% gift to humanity: The Human Genome Project II. [PDF]

Cell Res
Liu W, Li Y, Patrinos GP, Xu S, Thong MK, Chen Z, Crawley FP, Li L, Ekmekci PE, Drmanac R, Cheong W, Benamouzig R, Nguyen Q, Volchkov P, Reichardt JKV, Carninci P, Majumder P, Jin X, Church G, Wang J, Xu X.   +20 more
europepmc   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source