Early-onset osteoporosis

O Mäkitie, MC Zillikens - Calcified tissue international, 2022 - Springer
Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly.
It is very rare in children and young adults and the definition is not only based on a low BMD …

Functional validation of osteoporosis genetic findings using small fish models

E Kague, D Karasik - Genes, 2022 - mdpi.com
The advancement of human genomics has revolutionized our understanding of the genetic
architecture of many skeletal diseases, including osteoporosis. However, interpreting results …

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis

A Cohen, J Hostyk, EH Baugh, CM Buchovecky… - Bone, 2022 - Elsevier
Osteoporosis in premenopausal women with intact gonadal function and no known
secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with IOP …

[HTML][HTML] Where is bone science taking us?

BL Langdahl, AG Uitterlinden, SH Ralston - Best Practice & Research …, 2022 - Elsevier
Bone science has over the last decades unraveled many important pathways in bone and
mineral metabolism and the interplay between genetic factors and the environment. Some of …

Asian ethnicity and femoral geometry in atypical femur fractures: independent or interdependent risk factors?

ND Dhanekula, G Crouch, K Byth… - Journal of Bone and …, 2022 - academic.oup.com
The earliest reports of atypical femur fractures (AFF) emerged from Asia. In the West,
epidemiologic studies report a greater incidence of AFFs among subjects of Asian …

Whole exome sequencing in two Southeast Asian families with atypical femur fractures

W Zhou, HH Nguyen, DM Laarschot… - Journal of Bone and …, 2022 - academic.oup.com
Atypical femur fractures (AFFs) are rare complications of anti resorptive therapy. Devastating
to the affected individual, they pose a public health concern because of reduced uptake of …

Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment

N Garcia-Giralt, N Roca-Ayats, JF Abril, N Martinez-Gil… - Genes, 2022 - mdpi.com
Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis
femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of …

The contribution of deleterious rare alleles in ENPP1 and osteomalacia causative genes to atypical femoral fracture

H Furukawa, S Oka, N Kondo… - The Journal of …, 2022 - academic.oup.com
Abstract Context Atypical femoral fractures (AFFs) are very rare atraumatic or mild trauma
fractures in the subtrochanteric region or femoral shaft. Some unique genetic variants in …

Prevalence of low serum alkaline phosphatase and Hypophosphatasia in adult patients with atypical Femur fractures

E Tsiantouli, E Biver, T Chevalley, R Petrovic… - Calcified Tissue …, 2022 - Springer
Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline
phosphatase (ALP), its manifestations may include atypical femoral fractures (AFF) …

ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia

F Marini, L Masi, F Giusti, L Cianferotti… - The Journal of …, 2022 - academic.oup.com
Context Hypophosphatasia (HPP) is a rare metabolic disorder caused by deficiency of
alkaline phosphatase (ALP) enzyme activity, leading to defective mineralization, due to …