Bone material strength is determined by several factors, such as bone mass, matrix
composition, mineralization, architecture and shape. From a clinical perspective, bone …

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal
homeostasis and encompass one of the most diverse groups among rare diseases. In this …

MicroRNAs (miRNAs) are a new therapeutic tool that can target multiple genes by inducing
translation repression and target mRNA degradation. Although miRNAs have gained …

Abstract Purpose of Review The term osteopetrosis refers to a group of rare skeletal
diseases sharing the hallmark of a generalized increase in bone density owing to a defect in …

Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized
by defective osteoclast resorption or differentiation. Clinical manifestations include dense …

The identification of disease-causing mutations has in recent years progressed immensely
due to whole genome sequencing approaches using patient material. The task accordingly …

The drugs used for treating bone diseases (BDs), at present, elicit hazardous side effects
that include certain types of cancers and strokes, hence the ongoing quest for the discovery …

Osteopetrosis is a condition characterized by increased bone mass due to defects in
osteoclast function or formation. In the last decades, the molecular dissection of …

Osteopetrosis is a rare inherited disease caused by osteoclast failure, resulting in increasing
bone density in humans. Patients with osteopetrosis possess several dental and cranial …

Rare skeletal diseases are still in need of proper clinically available transfection agents as
the major challenge for first-in-human translation relates to intrinsic difficulty in targeting …