Human Molecular Genetics

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
pp. 2851-2859(9)
Authors: Burgunder J-M.; Brockington M.; Fallet S.; Voit T.; Yuva Y.; Romero N.; Blake D.J.; Prandini P.; Fardeau M.; Muntoni F.; Brown S.C.; Straub V.; Torelli S.; Storey G.; Benson M.A.; Pollitt C.; Herrmann R.; Richard I.; Anderson L.V.B.; Bashir R.; Sewry C.A.; Bushby K.

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7chloride channel gene
pp. 2861-2867(7)
Authors: Yoneyama T.; deVernejoul M-C.; Bénichou O.; Gram J.; Bollerslev J.; Singer F.R.; Beaverson K.; Aledo A.; Whyte M.P.; Cleiren E.; Hul E.V.; Hul W.V.

LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1
pp. 2869-2877(9)
Authors: Smith D.P.; Rayter S.I.; Niederlander C.; Spicer J.; Jones C.M.; Ashworth A.

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis
pp. 2879-2887(9)
Authors: Müller C.R.; Tilgen N.; Treves S.; Zorzato F.; Halliger-Keller B.; Muntoni F.; Sewry C.; Palmucci L.M.; Schneider C.; Hauser E.; Lehmann-Horn F.

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin–hamartin complex
pp. 2889-2898(10)
Authors: Nellist M.; Verhaaf B.; Goedbloed M.A.; Reuser A.J.J.; van den Ouweland A.M.W.; Halley D.J.J.

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin
pp. 2899-2905(7)
Authors: Li S.; Braverman R.; DeClue J.E.; Hodges A.K.; Maynard J.; Parry L.; Cheadle J.P.; Sampson J.R.

Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia
pp. 2907-2916(10)
Authors: Solla E.; Marrosu M.G.; Fadda E.; Murru R.; Melis C.; Murru M.R.; Porru I.; Costa G.; Zavattari P.; Rolesu M.; Cucca F.; Whalen M.; Cocco E.; Mancosu C.; Schirru L.

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
pp. 2917-2931(15)
Authors: Belohradsky B.H.; Tommerup N.; Buchanan K.L.; Misek D.E.; Rouillard J-M.; Kuick R.; Hanash S.M.; Uicker W.; Weemaes C.M.R.; Smeets D.; Sperling K.; Ehrlich M.; Tsien F.; Jiang G.; Sun B.

A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q
pp. 2933-2944(12)
Authors: Borrmann-Hassenbach M.; Kanyas K.; Franzek E.; Lanczik M.; Baur M.P.; Fritze J.; Wienker T.F.; Kreiner R.; Maier W.; Reuner U.; Rietschel M.; Weigelt B.; Propping P.; Nöthen M.M.; Minges J.; Lichtermann D.; Lerer B.; Cichon S.; Schumacher J.; Müller D.J.; HürterWindemuth M.; Strauch K.; Hemmer S.; Schulze T.G.; Schmidt-Wolf G.; Albus M.

Mutations in GJA1(connexin 43) are associated with non-syndromic autosomal recessive deafness
pp. 2945-2951(7)
Authors: Balkany T.; Liu X.Z.; Arnos K.S.; Xia X.J.; Adams J.; Nance W.E.; Chen Z.Y.; Welch K.O.; Tekin M.; Ouyang X.M.; Kristiansen A.; Pandya A.

Interaction between krit1 and icap1 infers perturbation of integrin 1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
pp. 2953-2960(8)
Authors: Clatterbuck R.E.; Rigamonti D.; Chang D.D.; Zhang J.; Dietz H.C.