Results 241 to 250 of about 926,795 (303)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Single-cell mapping of chromosome breaks identifies multiple fragile site classes with distinct DNA replication timing landscapes. [PDF]

Nat Commun
Elumalai J, Hiratani I.
europepmc   +1 more source

The Multifunctional SMC5/6 Complex in Genome Stability, Antiviral Restriction, and Human Disease. [PDF]

Curr Issues Mol Biol
Zhang Y, Lai W, Song J, Qiu C, Yan R, Zhao Q, Yu Y.   +6 more
europepmc   +1 more source

Local ancestry inference identifies robust evidence of selection in Neolithic Europe. [PDF]

Mol Biol Evol
Mies G, Mathieson I.
europepmc   +1 more source

Non-coding RNAs as regulators of chromosomal instability in breast cancer. [PDF]

Front Oncol
Pinilla-Peña D, Niño-Salgado A, Rondón-Lagos M.   +2 more
europepmc   +1 more source

Avoiding chromosome pathology when replication forks collide [PDF]

Nature, 2013
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2013 Macmillan Publishers Limited.Chromosome duplication normally initiates through the assembly of replication fork complexes at defined ...
Conrad A. Nieduszynski, Christian J Rudolph, Robert   +2 more
exaly   +2 more sources

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Regulation of Chromosome Replication

Annual Review of Biochemistry, 2000
▪ Abstract  The initiation of DNA replication in eukaryotic cells is tightly controlled to ensure that the genome is faithfully duplicated once each cell cycle. Genetic and biochemical studies in several model systems indicate that initiation is mediated by a common set of proteins, present in all eukaryotic species, and that the activities of these ...
T J, Kelly, G W, Brown
openaire   +2 more sources

Bacterial chromosome origins of replication

Current Opinion in Genetics & Development, 1993
Bacteria regulate chromosomal replication from one specific origin. We compare the regulatory requirements, DNA structures, and biochemical properties of the prototypic Escherichia coli origin with those of evolutionarily distant Bacillus subtilis and Caulobacter crescentus origins.
G T, Marczynski, L, Shapiro
openaire   +2 more sources

Replication of the bacterial chromosome

Proceedings of the Royal Society of London. Series B. Biological Sciences, 1966
Abstract In this paper I shall confine myself to only one aspect of chromosome replication in bacteria: its control and co-ordination with growth and cell division. The nature of the problem to be considered is made clear by two features of chromosome replication in Escherichia coli, First, under conditions of rapid growth, involving ...
openaire   +2 more sources