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Genetic causes of hypomagnesemia, a clinical overview
Magnesium is essential to the proper functioning of numerous cellular processes.
Magnesium ion (Mg 2+) deficits, as reflected in hypomagnesemia, can cause neuromuscular …
Magnesium ion (Mg 2+) deficits, as reflected in hypomagnesemia, can cause neuromuscular …
Cortical bone development, maintenance and porosity: genetic alterations in humans and mice influencing chondrocytes, osteoclasts, osteoblasts and osteocytes
T Isojima, NA Sims - Cellular and Molecular Life Sciences, 2021 - Springer
Cortical bone structure is a crucial determinant of bone strength, yet for many years studies
of novel genes and cell signalling pathways regulating bone strength have focused on the …
of novel genes and cell signalling pathways regulating bone strength have focused on the …
Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes
FAM111A, a serine protease, plays roles in DNA replication and antiviral defense. Missense
mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic …
mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic …
FAM111A protects replication forks from protein obstacles via its trypsin-like domain
Y Kojima, Y Machida, S Palani, TR Caulfield… - Nature …, 2020 - nature.com
Persistent protein obstacles on genomic DNA, such as DNA-protein crosslinks (DPCs) and
tight nucleoprotein complexes, can block replication forks. DPCs can be removed by the …
tight nucleoprotein complexes, can block replication forks. DPCs can be removed by the …
DNA–protein crosslink proteases in genome stability
Proteins covalently attached to DNA, also known as DNA–protein crosslinks (DPCs), are
common and bulky DNA lesions that interfere with DNA replication, repair, transcription and …
common and bulky DNA lesions that interfere with DNA replication, repair, transcription and …
Mechanisms in endocrinology: novel genetic causes of short stature
JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …
Functions and evolution of FAM111 serine proteases
AL Welter, YJ Machida - Frontiers in molecular biosciences, 2022 - frontiersin.org
Proteolysis plays fundamental and regulatory roles in diverse cellular processes. The serine
protease FAM111A (FAM111 trypsin-like peptidase A) emerged recently as a protease …
protease FAM111A (FAM111 trypsin-like peptidase A) emerged recently as a protease …
FAM111 protease activity undermines cellular fitness and is amplified by gain‐of‐function mutations in human disease
Dominant missense mutations in the human serine protease FAM111A underlie perinatally
lethal gracile bone dysplasia and Kenny–Caffey syndrome, yet how FAM111A mutations …
lethal gracile bone dysplasia and Kenny–Caffey syndrome, yet how FAM111A mutations …
Unravelling the intricate roles of FAM111A and FAM111B: from protease-mediated cellular processes to disease implications
Proteases are critical enzymes in cellular processes which regulate intricate events like
cellular proliferation, differentiation and apoptosis. This review highlights the multifaceted …
cellular proliferation, differentiation and apoptosis. This review highlights the multifaceted …
Hypocalcemic disorders
E Bove-Fenderson, M Mannstadt - Best Practice & Research Clinical …, 2018 - Elsevier
Calcium is vital for life, and extracellular calcium concentrations must constantly be
maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs …
maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs …