Genetic causes of hypomagnesemia, a clinical overview

DHHM Viering, JHF de Baaij, SB Walsh, R Kleta… - Pediatric …, 2017 - Springer
Magnesium is essential to the proper functioning of numerous cellular processes.
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 …

Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes

S Palani, Y Machida, JR Alvey, V Mishra… - Nature …, 2024 - nature.com
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 …

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 …

DNA–protein crosslink proteases in genome stability

A Ruggiano, K Ramadan - Communications biology, 2021 - nature.com
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 …

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 …

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 …

FAM111 protease activity undermines cellular fitness and is amplified by gain‐of‐function mutations in human disease

S Hoffmann, S Pentakota, A Mund, P Haahr… - EMBO …, 2020 - embopress.org
Dominant missense mutations in the human serine protease FAM111A underlie perinatally
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

D Naicker, C Rhoda, F Sunda, A Arowolo - International Journal of …, 2024 - mdpi.com
Proteases are critical enzymes in cellular processes which regulate intricate events like
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 …