research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
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research Signaling and Gene Expression for Water-Tolerant Legume Nodulation
The tropical legume Sesbania rostrata can form nodules in waterlogged conditions using a different method that involves plant hormones and specific genes.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Abstract 21: Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Association between digit ratio (2D:4D) and palmaris longus muscle agenesis according to gender: a radiological study
Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Selective androgen receptor modulators: a critical appraisal
SARMs show promise but need more evidence to prove they're better than traditional androgens.
research ANTI-CD19 MONOCLONAL ANTIBODY FOR SYSTEMIC LUPUS ERYTHEMATOSUS AND NEUROMYELITIS OPTICA SPECTRUM DISORDER
Anti-CD19 therapy may help treat SLE and NMOSD.
research การศึกษาการเปลี่ยนแปลงของเส้นผมและหนังศีรษะในผู้ป่วย SLE
SLE patients experience hair loss similar to telogen effluvium, with hair damage and immune activity at hair follicles.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research The Expressions Rules of Wnt10b and SFRP2 Gene in Skin of Wanxi Angora Rabbit
Wnt10b promotes hair growth, while SFRP2 inhibits it in Wanxi Angora rabbits.
research Ovarian steroid cell tumor (not otherwise specified) with subsequent spontaneous pregnancy after tumor removal: a case report and literature review
After tumor removal, the woman regained normal hormone levels, menstruated, and had a healthy baby.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Can we identify a post‐Serenoa syndrome (PSS)? A case series on sexual and psychiatric side effects of Serenoa repens
Serenoa repens may cause long-lasting sexual and psychiatric side effects.
research Assessment of Optimism in Women with Polycystic Ovary Syndrome: A Case Control-Study
Women with PCOS tend to be less optimistic than those without it.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Metabolomic biomarkers in women with polycystic ovary syndrome: a pilot study
Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research The heme-responsive PrrH sRNA regulates Pseudomonas aeruginosa pyochelin gene expression
PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research 575 INTASYL self-delivering RNAi: A flexible platform to treat dermatological malignancies
INTASYL is a promising, adaptable RNAi technology for treating skin cancers.
research Characterizing hair loss in female patients with systemic lupus erythematosus (SLE)
Women with lupus experienced non-scarring hair loss with fewer hair follicles, and the test for lupus in hair was not helpful.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.