[HTML][HTML] A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects

HY Kim, JH Shim, CY Heo - International Journal of Molecular Sciences, 2023 - mdpi.com
Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic
course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors …

Auricular ossification: A newly recognized feature of osteoprotegerin‐deficiency juvenile Paget disease

GS Gottesman, KL Madson… - American Journal of …, 2016 - Wiley Online Library
We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly
recognized feature of osteoprotegerin (OPG)‐deficiency juvenile Paget disease (JPD). AO …

PHEX 3′‐UTR c.*231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X‐Linked …

S Mumm, M Huskey, A Cajic, V Wollberg… - Journal of Bone and …, 2015 - academic.oup.com
Heritable forms of hypophosphatemic rickets (HR) include X‐linked dominant (XLH),
autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX …

Coalescing expansile skeletal disease: delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V

MP Whyte, J Aronson, WH McAlister, RS Weinstein… - Bone, 2021 - Elsevier
In 2003, we briefly reported the remarkable osteopathy of a 12-year-old boy who at age two
months began fracturing his limbs with subsequent hyperplastic callus formation and …

A Novel Mouse Model for the Study of Spinal Cord Injuryassociated Heterotopic Ossification

R Aita - 2023 - search.proquest.com
Background: About 900,000 individuals suffer a traumatic spinal cord injury (SCI) every year.
SCI severely impacts the quality of life and increases the risk for debilitating sequelae. One …

Impacts épigénétiques et phénotypiques des techniques de reproduction assistée chez la vache laitière

S Lafontaine - 2023 - corpus.ulaval.ca
Résumé Les techniques de reproduction assistée (TRA) sont d'importants outils de la
révolution génomique de l'industrie laitière. En dépit de l'amélioration fulgurante des taux de …

Hypocalcemia--a Diagnostic Challenge.

MB Gomes, AC Azevedo, A Marinhas… - Central European …, 2023 - search.ebscohost.com
Objective--The authors aimed to describe a case of a rare etiology of hypocalcemia in a
child, and highlight the importance of clinical suspicion for prompt diagnosis of calcium …

[PDF][PDF] NOVEL MOLECULAR MECHANISMS OF THYROID DISORDERS: FROM HUMAN DISEASES TO MOUSE MODELS

K Patyra - utupub.fi
The thyroid gland secretes thyroid hormones (TH), which have a crucial role in metabolism,
as well as childhood brain growth and development. The thyroid stimulating hormone (TSH) …

Pseudohypoparathyroidism type 1a, pseudopseudohypoparathyroidism, and Albright hereditary osteodystrophy

LS Weinstein - Hypoparathyroidism, 2015 - Springer
Albright hereditary osteodystrophy (AHO) is a congenital disorder caused by heterozygous
loss-of-function mutations of the GNAS gene encoding G s α, the ubiquitously expressed G …