Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder, +33

Nature Genetics

HepatologyMedicineGeneticsPathologyCancer Genomics +7

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Doris Wöhrle, Dieter Kotzot, Mark C. Hirst, +7

PubMed

Familial pericentric inversion of chromosome 12

I. Voiculescu, Gotthold Barbi, Günther Wolff, +3

Human Genetics

ChromatinCytogeneticsGeneticsChromosome BiologyMolecular Genetics +4

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

Anne-Kathrin Lutz, Stefanie Pfaender, Berra Incearap, +25

Science Translational Medicine

FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

Julia Higelin, Maria Demestre, Stefan Putz, +14

Frontiers in Cellular Neuroscience

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2‐22.3 with a highly variable phenotype in female carriers

Sylwia Chocholska, Eva Rossier, Gotthold Barbi, +1

American Journal of Medical Genetics Part A

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Olivier Hagens, Aline Dubos, Fatima Abidi, +15

Human Genetics

Developmental BiologyNovel Kiaa1202 GeneMendelian DisorderGenetic DisorderGenetics +9

Rat Embryonic Fibroblasts Improve Reprogramming of Human Keratinocytes into Induced Pluripotent Stem Cells

Leonhard Linta, Marianne Stockmann, Karin N. Kleinhans, +8

Stem Cells and Development

Tissue EngineeringFeeder CellsAdult Stem CellBiomedical EngineeringCell Specialization +16

An excess of chromosome 1 breakpoints in male infertility

Iben Bache, Elvire Van Assche, Sultan Cingöz, +56

European Journal of Human Genetics

InfertilityFertilityCytogeneticsGeneticsChromosome Biology +6

Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation

Alberto Catanese, Florian olde Heuvel, Medhanie Mulaw, +8

Autophagy