Results 101 to 110 of about 3,646,381 (383)
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Human Mutation, 2016 Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.
Lijia Huang +52 more
semanticscholar +1 more source
Surfaceome: a new era in the discovery of immune evasion mechanisms of circulating tumor cells
Molecular Oncology, EarlyView.In the era of immunotherapies, many patients either do not respond or eventually develop resistance. We propose to pave the way for proteomic analysis of surface‐expressed proteins called surfaceome, of circulating tumor cells. This approach seeks to identify immune evasion mechanisms and discover potential therapeutic targets. Circulating tumor cells (
Doryan Masmoudi +3 more
wiley +1 more source
PLoS ONE, 2018 Introduction White matter hyperintensity (WMH) volume on MRI is increased among presymptomatic individuals with autosomal dominant mutations for Alzheimer’s disease (AD).
Seonjoo Lee +31 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker +14 more
wiley +1 more source
Exact phase diagram of quasispecies model with mutation rate modifier [PDF]
Phys. Rev. Lett. 102, 038101 (2009), 2008 We consider an infinite asexual population with a mutator allele which can elevate mutation rates. With probability $f$, a transition from nonmutator to mutator state occurs but the reverse transition is forbidden. We find that at $f=0$, the population is in the state with minimum mutation rate and at $f=f_c$, a phase transition occurs between a mixed ...
arxiv +1 more source
Sensitivity of the Boston criteria version 2.0 in Dutch-type hereditary cerebral amyloid angiopathy [PDF]
Background and aim: The revised Boston criteria v2.0 for cerebral amyloid angiopathy (CAA) add two radiological markers to the existing criteria: severe visible perivascular spaces in the centrum semiovale and white matter hyperintensities (WMHs) in a ...
Kaushik, K. +12 more
core +1 more source
New Phytologist, 2018 The presence of seed color in common bean (Phaseolus vulgaris) requires the dominant-acting P (pigment) gene, and white seed is a recessive phenotype in all domesticated races of the species.
P. McClean +8 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.The authors applied joint/mixed models that predict mortality of trifluridine/tipiracil‐treated metastatic colorectal cancer patients based on circulating tumor DNA (ctDNA) trajectories. Patients at high risk of death could be spared aggressive therapy with the prospect of a higher quality of life in their remaining lifetime, whereas patients with a ...
Matthias Unseld +7 more
wiley +1 more source
A possible dominant white gene in Jersey cattle
Genetics Selection Evolution, 2001 A white heifer ("Snow") was born in 1991 from coloured registered Jersey parents. She produced six calves sired by coloured Jersey bulls: three white bull calves, two white heifer calves, and one coloured bull calf. One of the white bull calves was mated
Sponenberg D Phillip, Morris Chris A
doaj +1 more source
A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
Haseki Tıp Bülteni, 2020 We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings.
Senem Ayça +3 more
doaj +1 more source