Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter, +14

Nature Genetics

Signal TransductionGenetic DisorderGeneticsCause Darier DiseaseMolecular Biology +4

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

Mayada Tassabehji, Andrew Read, Valerie Newton, +3

Nature

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +8

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan, +15

Nature Genetics

SpermatogenesisDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +8

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara, +19

Nature Genetics

PathogenesisImmunologyIga GlomerulonephritisPathologyRenal Pathology +4

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Emma Tonkin, Tzu-Jou Wang, Steven Lisgo, +2

Nature Genetics

Genome InstabilityCell DivisionGenetic DisorderGeneticsLange Syndrome +5

Downregulation of NANOG Induces Differentiation of Human Embryonic Stem Cells to Extraembryonic Lineages

Louise Hyslop, Miodrag Stojković, Lyle Armstrong, +7

Stem Cells

Nanog Induces DifferentiationExtraembryonic LineagesNanog TranscriptPreimplantation Human EmbryosDevelopmental Biology +12

Dynamics of concerted evolution of ribosomal DNA and histone gene families in the melanogaster species subgroup of Drosophila

Enrico Coen, Tom Strachan, Gabriel A. Dover

Journal of Molecular Biology

Ribosomal DnaChromatinMedicineGeneticsEvolutionary Biology +10

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

David O. Morgan, Lee Turnpenny, Judith Goodship, +11

Nature Genetics

Knockout MouseCell LineageInv MouseDevelopmental BiologyNovel Gene +5

An Autogeneic Feeder Cell System That Efficiently Supports Growth of Undifferentiated Human Embryonic Stem Cells

Petra Stojković, Majlinda Lako, Rebecca Stewart, +6

Stem Cells

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

May Tassabehji, Andrew Read, Valerie Newton, +3

Nature Genetics

Pax3 GeneDisease MechanismGenetic DisorderGeneticsPathogenesis +6