Alpha 2.0
Login Register
» Authors » Margaret Huskey

Margaret Huskey

Explore the profile of Margaret Huskey including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 130
Followers 0
Related Specialties
Orthopedics
Endocrinology
General Medicine
Top 10 Co-Authors
Steven Mumm
Michael P Whyte
William H McAlister
Shenghui Duan
Deborah Wenkert
Gary S Gottesman
Vinieth N Bijanki
Fan Zhang
Katherine L Madson
Angela Nenninger
Published In
Bone
J Bone Miner Res
Sci Transl Med
Am J Med Genet A
JBMR Plus
Affiliations
Soon will be listed here.
Recent Articles
1.
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
Turan S, Mumm S, Alavanda C, Kaygusuz B, Gurpinar Tosun B, Arman A, et al.
JBMR Plus . 2022 Aug; 6(8):e10663. PMID: 35991533
Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for...
2.
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V
Whyte M, Aronson J, McAlister W, Weinstein R, Wenkert D, Clements K, et al.
Bone . 2020 Dec; 145:115835. PMID: 33360005
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 expansion and fusion...
3.
regulates the action of nitrogen-containing bisphosphonates on bone
Surface L, Burrow D, Li J, Park J, Kumar S, Lyu C, et al.
Sci Transl Med . 2020 May; 12(544). PMID: 32434850
Nitrogen-containing bisphosphonates (N-BPs), such as alendronate, are the most widely prescribed medications for diseases involving bone, with nearly 200 million prescriptions written annually. Recently, widespread use of N-BPs has been...
4.
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study)
Smith P, Gottesman G, Zhang F, Cook F, Ramirez B, Wenkert D, et al.
J Bone Miner Res . 2020 Jan; 35(5):920-931. PMID: 31910300
X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children...
5.
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?
Whyte M, Amalnath S, McAlister W, McKee M, Veis D, Huskey M, et al.
Bone . 2019 Dec; 132:115190. PMID: 31843680
The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integrin-binding...
6.
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
Mumm S, Gottesman G, Wenkert D, Campeau P, Nenninger A, Huskey M, et al.
Bone . 2019 Sep; 130:115047. PMID: 31472299
Bruck syndrome (BRKS) is the rare disorder that features congenital joint contractures often with pterygia and subsequent fractures, also known as osteogenesis imperfecta (OI) type XI (OMIM # 610968). Its...
7.
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6
Whyte M, McAlister W, Zhang F, Bijanki V, Nenninger A, Gottesman G, et al.
Bone . 2019 May; 127:228-243. PMID: 31085352
LRP5 encodes low-density lipoprotein receptor-related protein 5 (LRP5). When LRP5 with a Frizzled receptor join on the surface of an osteoblast and bind a member of the Wnt family of...
8.
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review
Whyte M, Amalnath S, McAlister W, Pedapati R, Muthupillai V, Duan S, et al.
Bone . 2018 Aug; 116:321-332. PMID: 30077757
Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and...
9.
PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets
Mumm S, Huskey M, Cajic A, Wollberg V, Zhang F, Madson K, et al.
J Bone Miner Res . 2014 Jul; 30(1):137-43. PMID: 25042154
Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX, DMP1 or ENPP1, and activating mutations in FGF23, respectively)....
10.
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis
Mumm S, Huskey M, Duan S, Wenkert D, Madson K, Gottesman G, et al.
Am J Med Genet A . 2014 Jul; 164A(9):2287-93. PMID: 24989131
Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene...