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Frameshift mutation

Chlamydia trachomatis In Vivo to In Vitro Transition Reveals Mechanisms of Phase Variation and Down-Regulation of Virulence Factors

Vítor Borges, Miguel Pinheiro, [ ... ], João P. Gomes

Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens

Christoph B. Geier, Alexander Piller, [ ... ], Hermann M. Wolf

Widely Used Herpes Simplex Virus 1 ICP0 Deletion Mutant Strain dl1403 and Its Derivative Viruses Do Not Express Glycoprotein C Due to a Secondary Mutation in the gC Gene

Cristina W. Cunha, Kathryne E. Taylor, [ ... ], Anthony V. Nicola

Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?

Rebecca Rodríguez Viales, Christina A. Eichstaedt, [ ... ], Katrin Hinderhofer

Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A

Korcan Demir, Walaa E. Kattan, [ ... ], Yufei Shi

Genetic Analysis of T Cell Lymphomas in Carbon Ion-Irradiated Mice Reveals Frequent Interstitial Chromosome Deletions: Implications for Second Cancer Induction in Normal Tissues during Carbon Ion Radiotherapy

Benjamin J. Blyth, Shizuko Kakinuma, [ ... ], Yoshiya Shimada

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Suzanne I. M. Alsters, Anthony P. Goldstone, [ ... ], Alexandra I. F. Blakemore

Reconstitution of TGFBR2-Mediated Signaling Causes Upregulation of GDF-15 in HCT116 Colorectal Cancer Cells

Jennifer Lee, Fabia Fricke, [ ... ], Johannes Gebert

Genome Analysis of the First Extensively Drug-Resistant (XDR) Mycobacterium tuberculosis in Malaysia Provides Insights into the Genetic Basis of Its Biology and Drug Resistance

Chee Sian Kuan, Chai Ling Chan, [ ... ], Kee Peng Ng

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, [ ... ], Edgar A. Otto

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, [ ... ], Jianshe Wang

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

Jing Zheng, Zhengbiao Ying, [ ... ], Min-Xin Guan

An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family

Tadashi Tatematsu, Masashi Kimura, [ ... ], Yoshihito Tokita

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