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Journal of Biological Chemistry, ISSN 0021-9258, 02/2008, Volume 283, Issue 9, pp. 5525 - 5532
Although chromosome X open reading frame 6 ( CXorf6 ) has been shown to be a causative gene for hypospadias, its molecular function remains unknown. To clarify... 
RNA, Small Interfering - genetics | Transcriptional Activation - genetics | Humans | Steroidogenic Factor 1 - genetics | Male | Promoter Regions, Genetic - genetics | Leydig Cell Tumor - metabolism | DNA-Binding Proteins - metabolism | Leydig Cell Tumor - genetics | Cell Nucleus - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | Cell Nucleus - pathology | Leydig Cell Tumor - pathology | Steroidogenic Factor 1 - metabolism | Nuclear Proteins - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Hypospadias - metabolism | Testosterone - biosynthesis | Hypospadias - genetics | Nuclear Proteins - metabolism | Codon, Nonsense | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Open Reading Frames - genetics | Nerve Tissue Proteins - genetics | RNA Stability - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Animals | Cell Nucleus - genetics | Cell Line, Tumor | Mice | Hypospadias - pathology | Promoter Regions (Genetics) | Steroidogenic Factor 1 | Trans-Activation (Genetics) | Open Reading Frames | Hypospadias | Leydig Cell Tumor | Biochemistry, Molecular Biology | Nerve Tissue Proteins | RNA Stability | Nuclear Proteins | Life Sciences | Testosterone | RNA, Small Interfering | Transcription Factors | Molecular biology | Cell Nucleus | Basic Helix-Loop-Helix Transcription Factors | DNA-Binding Proteins
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, p. e107428
MID1 is a microtubule-associated protein that belongs to the TRIM family. MID1 functions as an ubiquitin E3 ligase, and recently was shown to catalyze the... 
BINDING DOMAINS | SERINE/THREONINE PHOSPHATASES | ZINC FINGERS | SYNDROME GENE-PRODUCT | MICROTUBULES | PHOSPHORYLATION | REGULATORY SUBUNIT ALPHA-4 | MULTIDISCIPLINARY SCIENCES | GBBB SYNDROME | LIGASE MID1 | OPITZ-G/BBB SYNDROME | Transcription Factors - chemistry | Protein Phosphatase 2 - chemistry | Humans | Molecular Sequence Data | Cleft Palate - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Recombinant Fusion Proteins - metabolism | Ubiquitination | Microtubule Proteins - chemistry | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Fibroblasts - metabolism | Protein Structure, Tertiary | Amino Acid Sequence | Hypertelorism - metabolism | Hypospadias - metabolism | Signal Transduction | Gene Expression Regulation | Hypertelorism - genetics | Protein Phosphatase 2 - genetics | Ubiquitin-Protein Ligases - metabolism | Esophagus - metabolism | Microtubule Proteins - metabolism | Models, Molecular | Hypospadias - genetics | Nuclear Proteins - metabolism | Genetic Diseases, X-Linked - metabolism | Hypertelorism - pathology | Recombinant Fusion Proteins - chemistry | Transcription Factors - genetics | Esophagus - abnormalities | Fibroblasts - pathology | Nuclear Proteins - chemistry | Ubiquitin-Protein Ligases - chemistry | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Esophagus - pathology | Sequence Alignment | Intracellular Signaling Peptides and Proteins - chemistry | Cleft Palate - pathology | Protein Phosphatase 2 - metabolism | Genetic Diseases, X-Linked - pathology | Recombinant Fusion Proteins - genetics | Cleft Palate - metabolism | Ubiquitin-Protein Ligases - genetics | Hypospadias - pathology | Ubiquitin | Genetic aspects | Phosphatases | Ligases | Phosphoprotein phosphatase | Birth defects | Phosphatase | Kinases | Zinc | Proteins | Fibroblasts | Protein phosphatase | Mutation | Catalysis | Ubiquitin-protein ligase | Apoptosis
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 243
Journal Article
Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 01/2017, Volume 165, Issue Pt A, pp. 79 - 85
Journal Article
BBA - Molecular Cell Research, ISSN 0167-4889, 10/2017, Volume 1864, Issue 10, pp. 1844 - 1854
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, Issue 4, pp. 516 - 522
Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a... 
INACTIVATION | ANDROGEN RECEPTOR | KLF6 | RISK-FACTORS | EXTERNAL GENITALIA | TISSUE DISTRIBUTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | BIRTH-WEIGHT | DIFFERENT PHENOTYPES | UP-REGULATION | SUSCEPTIBILITY GENES | Chromosomes, Human, Pair 8 - genetics | Kruppel-Like Factor 6 | Exons | Humans | Asian Continental Ancestry Group - genetics | Male | Genotyping Techniques | Case-Control Studies | Lod Score | Microsatellite Repeats | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Oxidoreductases - genetics | Gene Frequency | Gene Expression Regulation | Genotype | Hypospadias - genetics | Proto-Oncogene Proteins - genetics | Chromosome Mapping | Hydroxysteroid Dehydrogenases - genetics | Hydroxyprostaglandin Dehydrogenases - genetics | Aldo-Keto Reductase Family 1 Member C3 | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 - genetics | 3-Hydroxysteroid Dehydrogenases - genetics | Kruppel-Like Transcription Factors - genetics | Dehydrogenases | Genes | Childrens health | Families & family life | Genomes | Environmental factors | Regulatory sequences | Metabolism | Kinases | Medicine | Androgens | Hospitals | Penis | Chromosome 10 | Chromosome 8 | Boys | Genetics | Mutation | Gene mapping | Prostate cancer | Protein structure | Linkage analysis | Structure-function relationships
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2015, Volume 52, Issue 2, pp. 104 - 110
Journal Article