Molecular Genetics & Genomic Medicine publishes first articles
The journal opened for submissions at the end of 2012 and accepts submissions across the fields of genetic medicine and human molecular genetics. MGGM is edited by Dr Max Muenke.
The first articles to be published online are:
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center by Christina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, Jacqueline K. Rainger, Volker Hingst, Theodor Zimmermann, Stefani Tech, Rudolf F. Guthoff, Veronica van Heyningen & David R. FitzPatrick
Summary: Mutations in three genes, SOX2, OTX2 and STRA6, account for 75% of the cases of severe bilateral eye malformations in a consecutive series of cases from a single centre. The phenotypic spectrum associated with mutations in each of these genes is wider than previously thought. We also report the first observation of a heterozygous loss-of-function allele of SOX2 that is inherited from an affected parent.
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation by Giuseppina Andreotti, Emilia Pedone, Assunta Giordano & Maria Vittoria Cubellis
Summary: Phosphomannomutase 2 deficiency represents the most frequent type of congenital disorders of glycosylation. For this disease there is no cure at present. We identified molecules that activate a common phosphomannomutase2 mutant and improve its thermophilicity, thermostability and resistance to proteases.
All of these articles are open access: free to read, download and share!