Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Synpolydactyly 1(SPD1) is a dominantly inherited distal limb anomaly that is characterized by incomplete digit separation and increased number of digits. SPD1 is most commonly caused by polyalanine repeat expansions and mutations in the homeodomain of the HOXD13. We report a splice donor site mutation in HOXD13 associated in most cases with cortical bone thinning. In vitro study of transcripts and truncated protein analysis indicated that c.781+1G>A mutation results in truncated HOXD13 protein p.G190fsX4. Luciferase assay indicated that the truncated HOXD13 protein failed to bind to DNA. The mechanism for this phenotype was truncated protein loss of function.
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PMID:A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. 2405 21

Excoriation (skin-picking) disorder (SPD) has similarities to obsessive-compulsive disorder (OCD) and is included within the obsessive-compulsive and related disorders (OCRD) diagnostic class in DSM-5. Separate neuroimaging and neurocognitive studies suggest that people affected by SPD find it difficult to inhibit dominant motor responses due to a failure of "top-down" control mechanisms. No study has examined the neural correlates of SPD in participants with varying degrees of impulsive motor behavior. This study correlated cortical thickness and volumes of selected subcortical structures with stop-signal task performance in participants with SPD (N=15) and in healthy control subjects (N=8). All participants were free from current psychiatric comorbidity, including OCD. In volunteers with SPD, longer stop-signal reaction times were correlated with cortical thinning in the right insula and right-inferior parietal lobe and with increased cortical thickness in the left-lateral occipital lobe, though these findings did not withstand correction for multiple comparisons. There were no significant correlations between cortical thickness in these three structures and stop-signal reaction times in the control group. This study suggests that structural abnormalities in the insular cortex and parietal and occipital regions may play a role in the pathophysiology of SPD. Further neuroimaging research is needed to understand the neurobiology of SPD and its relationship with other putative OCRDs.
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PMID:Neuroanatomical Correlates of Impulsive Action in Excoriation (Skin-Picking) Disorder. 2968 64