Skeletal Muscle, Bone and Calcium Disorders

Recent Publications (2009 -)

Ayturk UM, Jacobsen CM, Christodoulou DC, Gorham J, Seidman JG, Seidman CE, Robling AG, Warman ML.  An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: Applications in mice with bone property altering Lrp5 mutations.  J Bone Miner Res. 2013 Oct;28(10):2081-93.  PMCID: PMC3743099. Available on 2014/10/2. |PDF Download

Parfenov MG, Gorham JM, Li DY, Banerjee I, Lai X, Witzmann FA, Seidman CE, Seidman JG, Gomes AV, Shelton GD, Lieber RL, Chen J.  Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.  Hum Mol Genet. 2014 Jan 1;23(1):209-25.  PMCID: PMC3916749. Available on 2015/1/1. | PDF Download

Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, Holmyard D, Kraev A, Seidman CE, Seidman JG, Tupling AR, Maclennan DH.   Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.  Proc Natl Acad Sci U S A. 2009;106(51):21813-8.  PMCID: PMC2788482. | PDF Download

 


 

 

Prior Selected Publications (- 2007)

Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, Boncompagi S, Kraev A, Gramolini AO, Dirksen RT, Franzini-Armstrong C, Seidman CE, Seidman JG, Maclennan DH.  An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18537-42. PMCID: PMC2141812.

Pizard A, Burgon P, Paul DP, Logan M, Bruneau BG, Seidman CE, and Seidman JG. Cx40, a primary downstream target of Tbx5, plays a critical role in skeletal development.  Mol Cell Bio. 2005;25(12):5073-83.

Rallis C, Bruneau BG, Del Buono J, Seidman CE, Seidman JG, Nissim S, Tabin CJ, Logan MP. Tbx5 is required for forelimb bud formation and continued outgrowth. Development. 2003;130(12):2741-51.

Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M.  Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA Syndrome. Human Molecular Genetics. 2002;11(8):961-9.

 

Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR.  A nonsense mutation in MSX1 causes Witkop syndrome.  Amer J Hum Genet. 2001;69(1):67-74.

 

Yeon HB, Lindor NM, Seidman JG, Seidman CE.  Autosomal dominant Pyoderma Gangrenosum-Acne-Arthritis (PAPA Syndrome) maps to chromosome 15q.  Amer J Hum Genet.  2000;66(4):1443-1448.

 

Bamshad M, Le T, Watkins WS, Dixon ME, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJM, Lin RC, Seidman CE, Seidman JG, Wallerstein R, Moran E, Sutphen R, Campbell CE, Jorde LB.  The spectrum of mutations in TBX3: Genotype/phenotype relationship in Ulnar-Mammary Syndrome.  Am J Hum Genet. 1999;64:1550-1562.

 

Hu G, Vastardis H, Bendall AJ, Wang Z, Logan M, Zang H, Nelson C, Stein S, Greenfield N, Seidman CE, Seidman JG, Abate-Shen C.  Haploinsufficiency of MSX1 causes selective tooth agenesis. Mol Cell Biol. 1998;18(10):6044-6051.

 

Kovacs CS, Ho-Pao CL, Hunzelman HL, Lanske B, Fox J, Seidman JG, Seidman CE, Kronenberg HM.  Regulation of murine fetal-placental calcium metabolism by the calcium sensing receptor.  J Clin Invest. 1998;101(12):2812-20.

 

Kelleher CL, Buckalew VM, Frederickson ED, Rhodes DJ, Conner DA, Seidman JG, Seidman CE. CLCN5 mutation Ser244Leu is associated with x-linked renal failure without x-linked recessive hypophosphatemic rickets. Kidney International. 1998;53(1):31-7.

 

Vassilev PM, Ho-Pao CL, Kanazirska MP, Ye C, Hong K, Seidman CE, Seidman JG, Brown EM.  Cao-sensing receptor (CaR)-mediated activation of K+ channels is blunted in CaR gene-deficient mouse neurons.  Neuroreport. 1997;8(6):1411-6.

 

Argov Z, Tiram E, Eisenberg I, Sadeh M, Seidman CE, Seidman JG, Karpati G, Mitrani-Rosenbaum S.  Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1.  Ann Neurol. 1997;41(4):548-551.

 

Lin RC*, Bamshad M*, Law DJ, Watkins WS, Krakowiak PA, Moore ME, Franceshinin P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Seidman JG, Seidman CE, Jorde LB.  Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.  Nat Genet. 1997;16:311-315.

 

Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT.  A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum and acne: PAPA syndrome.  Mayo Clinics Proc. 1997;72(7):611-615.

 

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE.  A human MSX1 homeodomain missense mutation causes selective tooth agenesis.  Nat Genet. 1996;13(4):417-421.

 

Pollak MR, Seidman CE, Brown EM.  Three inherited disorders of calcium sensing.  Medicine. 1996;75(3):115-123.

 

Brown EM, Pollak M, Seidman CE, Seidman JG, Chou Y-WH, Riccardi D, Hebert SC.  Calcium-ion-sensing cell-surface receptors.  N Eng J Med. 1995; 333(4):234-40.

 

Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG.  Hereditary inclusion body myopathy maps to chromosome 9p1-q1.  Hum Mol Genet. 1995;5(1):159-163.

 

Ho C, Conner DA, Pollak M, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE.  A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet. 1995;11:389-394.

 

Chou Y-HW, Pollak MR, Brandi ML, Toss G, Arnquist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, Seidman CE.  Mutations in the human Ca2+-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.  Am J Human Genet. 1995;56:1075-1079.

 

Pollak MR, Brown E, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG.  Autosomal dominant hypocalcemia caused by a Ca2+-sensing receptor gene mutation. Nat Genet. 1994;8:303-307

 

Tsukurov O, Boehmer A, Flynn J, Nicolai J-P, Hamel BCJ, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C, Tabin C, Seidman JG, Seidman CE.  A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.  Nat Genet. 1994;6:282-286.

 

Pollak MR, Chou Y-WW, Marx SJ, Steinmann B, Cole DEC, Brandi ML, Papapoulos SE, Menko R, Hendy GN, Brown EM, Seidman CE, Seidman JG.  Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: The effect of mutant gene dosage on phenotype.  J Clin Invest. 1994;93:1108-1112.

 

Pollak MR, Brown EM, Chou T-HW, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG.  Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.  Cell. 1993;75:1297-1303.

 

Pollak MR, Chou Y-WW, Cerda JJ, Steinmann B, Seidman JG, Seidman CE.  Homozygosity mapping of the gene responsible for alkaptonuria to chromosome 3q2.  Nat Genet. 1993;5:201-204.

 

Chou Y-H, Brown E, Crowe G, Toss G, Seidman JG, Seidman CE.  The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.  Nature Genetics 1992;1:295-300.