Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, T. Horikoshi, Simon J. H. Heaney, +18

Proceedings of the National Academy of Sciences

Spermatogenic ability is different among males in different Y chromosome lineage

Y. Kuroki, Teruaki Iwamoto, Juwon Lee, +13

Journal of Human Genetics

SpermatogenesisInfertilityAndrologyDevelopmental BiologyFertility +10

Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans

Han-Jun Jin, Kyoung-Don Kwak, Michael F. Hammer, +7

Human Genetics

BiologyHuman VariationMedicineGeneticsEvolutionary Biology +9

The male-determining gene SRY is a hybrid of DGCR8 and SOX3, and is regulated by the transcription factor CP2

Youichi Sato, Toshikatsu Shinka, Kozue Sakamoto, +2

Molecular and Cellular Biochemistry

Transcriptional RegulationDevelopmental BiologyTranscription Factor Cp2GeneticsGenomic Mechanism +6

Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage

Toshikatsu Shinka, Keiko Tomita, Tatsushi Toda, +7

Journal of Human Genetics

Human VariationGenetic DisorderMedicineGeneticsEvolutionary Biology +7

Structure and expression of the glycine cleavage system in rat central nervous system

Yoshiyuki Sakata, Yuji Owada, Kohji Sato, +9

Molecular Brain Research

Molecular NeuroscienceMolecular PhysiologyBiochemistryG Protein-coupled ReceptorPhysiology +8

Direct Correlation Between Ischemic Injury and Extracellular Glycine Concentration in Mice With Genetically Altered Activities of the Glycine Cleavage Multienzyme System

Masaya Oda, Shigeo Kure, Taku Sugawara, +10

Stroke

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Shigeo Kure, Hanna Mandel, Marie-Odile Rolland, +7

Human Genetics

Genetic DisorderNatural SciencesGeneticsInherited Metabolic DiseaseMissense Mutation +9

Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence

Hiroaki Miyajima, Kenji E. Orii, Yasuko Shindo, +6

Neurology

Mitochondrial MyopathyMetabolic DisorderMitochondrial FunctionBiochemistryMedicine +12

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia

Shuichi KURE, Kazuhiro Kojima, T Kudo, +7

Journal of Human Genetics

Metabolic SyndromeMolecular PhysiologyGlycosylationGeneticsHuman Polymorphism +7