Human Molecular Genetics

Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: neuronal selectivity and potential neuroprotective role of HAP1
pp. 179-189(11)
Authors: Zucker, Birgit; Luthi-Carter, Ruth; Kama, Jibrin A.; Dunah, Anthone W.; Stern, Edward A.; Fox, Jonathan H.; Standaert, David G.; Young, Anne B.; Augood, Sarah J.

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
pp. 191-204(14)
Authors: Garcia-Barcelo, Mercè; Ganster, Raymond W.; Leon, Thomas Y.Y.; So, Man-Ting; Lau, Anson M.F.; Fu, Ming; Sham, Mai-Har; Knight, Joanne; Zannini, Maria Stella; Sham, Pak C.; Tam, Paul K.H.

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
pp. 205-220(16)
Authors: Moretti, Paolo; Bouwknecht, J. Adriaan; Teague, Ryan; Paylor, Richard; Zoghbi, Huda Y.

Strand bias in oligonucleotide-mediated dystrophin gene editing
pp. 221-233(13)
Authors: Bertoni, Carmen; Morris, Glenn E.; Rando, Thomas A.

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis
pp. 235-239(5)
Authors: Alazzouzi, Hafid; Domingo, Enric; González, Sara; Blanco, Ignacio; Armengol, Manel; Espín, Eloi; Plaja, Alberto; Schwartz, Simó; Capella, Gabriel

Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by large-scale DNA microarray analysis
pp. 241-253(13)
Authors: Iwamoto, Kazuya; Bundo, Miki; Kato, Tadafumi

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
pp. 255-265(11)
Authors: Yang, Zhenglin; Alvarez, Bernardo V.; Karan, Goutam; Frederick, Jeanne M.; Zhao, Yu; Sauvé, Yves; Li, Xi; Zrenner, Eberhart; Wissinger, Bernd; Hollander, Anneke I. Den; Katz, Bradley; Baehr, Wolfgang; Cremers, Frans P.; Casey, Joseph R.; Bhattacharya, Shomi S.; Zhang, Kang

Molecular dissection of the events leading to inactivation of the FMR1 gene
pp. 267-277(11)
Authors: Pietrobono, Roberta; Tabolacci, Elisabetta; Zito, Ilaria; Terracciano, Alessandra; Moscato, Umberto; Bagni, Claudia; Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
pp. 279-293(15)
Authors: Baker, Naomi L.; Mörgelin, Matthias; Peat, Rachel; Goemans, Nathalie; North, Kathryn N.; Bateman, John F.; Lamandé, Shireen R.

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells
pp. 295-305(11)
Authors: Esapa, Christopher T.; McIlhinney, R.A. Jeffrey; Blake, Derek J.

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
pp. 307-318(12)
Authors: Fernet, Marie; Gribaa, Moez; Seidahmed, Mohamed Zein; Hall, Janet; Koenig, Michel

Differential DNA hypermethylation and hypomethylation signatures in colorectal cancer
pp. 319-326(8)
Authors: Frigola, Jordi; Solé, Xavier; Paz, Maria F.; Moreno, Victor; Esteller, Manel; Capellà, Gabriel; Peinado, Miguel A.

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer
pp. 327-334(8)
Authors: Ohgari, Yoshiko; Sawamoto, Mari; Yamamoto, Masayoshi; Kohno, Hirao; Taketani, Shigeru

Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome
pp. 335-346(12)
Authors: Hewett, Duncan R.; Simons, Alison L.; Mangan, Niamh E.; Jolin, Helen E.; Green, Shelia M.; Fallon, Padraic G.; McKenzie, Andrew N.J.