Human Molecular Genetics

Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice
pp. 2727-2735(9)
Authors: Nasonkin, Igor O.; Ward, Robert D.; Raetzman, Lori T.; Seasholtz, Audrey F.; Saunders, Thomas L.; Gillespie, Patrick J.; Camper, Sally A.

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition
pp. 2737-2751(15)
Authors: Pavlicek, Adam; Noskov, Vladimir N.; Barrett, J. Carl; Jurka, Jerzy; Larionov, Vladimir

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells
pp. 2753-2765(13)
Authors: Ropero, Santiago; Setien, Fernando; Espada, Jesus; Fraga, Mario F.; Herranz, Michel; Asp, Julia; Benassi, Maria Serena; Franchi, Alessandro; Patiño, Ana; Ward, Laura S.; Bovee, Judith; Cigudosa, Juan C.; Wim, Wuyts; Esteller, Manel

Establishing the epigenetic status of the Prader–Willi/Angelman imprinting center in the gametes and embryo
pp. 2767-2779(13)
Authors: Kantor, Boris; Kaufman, Yotam; Makedonski, Kirill; Shemer, Ruth

The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
pp. 2781-2791(11)
Authors: Cariboni, Anna; Pimpinelli, Federica; Zaninetti, Roberta; Piccolella, Margherita; Rumio, Cristiano; Piva, Flavio; Rugarli, Elena I.; Maggi, Roberto

-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
pp. 2793-2801(9)
Authors: van Kuilenburg, André B.P.; Meinsma, Rutger; Beke, Eva; Assmann, Birgit; Ribes, Antonia; Lorente, Isabel; Busch, Rebekka; Mayatepek, Ertan; Abeling, Nico G.G.M.; van Cruchten, Arno; Stroomer, Alida E.M.; van Lenthe, Henk; Zoetekouw, Lida; Kulik, Willem; Hoffmann, Georg F.; Voit, Thomas; Wevers, Ron A.; Rutsch, Frank; van Gennip, Albert H.

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
pp. 2803-2811(9)
Authors: Topçu, Meral; Jobard, Florence; Halliez, Sophie; Coskun, Turgay; Yalçinkayal, Cengiz; Gerceker, Filiz Ozbas; Wanders, Ronald J.A.; Prud'homme, Jean-François; Lathrop, Mark; Özguc, Meral; Fischer, Judith

Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice
pp. 2813-2821(9)
Authors: Elso, Colleen M.; Lu, Xiaochen; Culiat, Cymbeline T.; Rutledge, Joe C.; Cacheiro, Nestor L.A.; Generoso, Walderico M.; Stubbs, Lisa J.

Evidence and characteristics of putative human recombination hotspots
pp. 2823-2828(6)
Authors: Zhang, Jing; Li, Fei; Li, Jun; Zhang, Michael Q.; Zhang, Xuegong

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
pp. 2829-2840(12)
Authors: Kelly, Robert G.; Jerome-Majewska, Loydie A.; Papaioannou, Virginia E.

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
pp. 2841-2851(11)
Authors: Innis, Jeffrey W.; Mortlock, Douglas; Chen, Zhi; Ludwig, Michael; Williams, Melissa E.; Williams, Thomas M.; Doyle, Colleen D.; Shao, Zhihong; Glynn, Michael; Mikulic, Davor; Lehmann, Katarina; Mundlos, Stefan; Utsch, Boris

The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice
pp. 2853-2862(10)
Authors: De Repentigny, Yves; Marshall, Philip; Worton, Ronald G.; Kothary, Rashmi

Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres
pp. 2863-2874(12)
Authors: Beatham, Jane; Romero, Rosario; Townsend, Stuart K.M.; Hacker, Terry; van der Ven, Peter F.M.; Blanco, Gonzalo

Defective recombination in infertile men
pp. 2875-2883(9)
Authors: Gonsalves, Joanna; Sun, Fei; Schlegel, Peter N.; Turek, Paul J.; Hopps, Carin V.; Greene, Calvin; Martin, Renee H.; Pera, Renee A. Reijo

Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes
pp. 2885-2892(8)
Authors: Bray, Nicholas J.; Jehu, Luke; Moskvina, Valentina; Buxbaum, Joseph D.; Dracheva, Stella; Haroutunian, Vahram; Williams, Julie; Buckland, Paul R.; Owen, Michael J.; O'Donovan, Michael C.