research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
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570-600 / 1000+ resultsresearch Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Non-Edg family LPA receptors: the cutting edge of LPA research
New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Long-term live imaging, cell identification and cell tracking in regenerating crustacean legs
A new method allows detailed, continuous imaging of crustacean leg regeneration without harming the cells.
research Table S1. Disease-dependent differences between tape-strip and bulk biopsy ssGSEA scores across hair follicle compartments
research Table S1. Disease-dependent differences between tape-strip and bulk biopsy ssGSEA scores across hair follicle compartments
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research ダブルストロボレンジファインダの開発(特別講演)(画像センシングおよび一般)
Some prostate cancers have gene changes that may affect treatment with certain drugs.
research Integrin-linked kinase inhibition via QLT0267 stops the epithelial outgrowth.
QLT0267 stops hair follicle cell growth and movement.
research Influence of Myosin Regulatory Light Chain and Myosin Light Chain Kinase on the Physiological Function of Inner Ear Hair Cells
NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
research Effect of longtime selenium-deficient feeding on the neurobehavioral development of the fourth generation rats in lactation.
Selenium and iodine deficiencies cause delayed growth and abnormal neural behavior in rats.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research Lgr6+ cells in the biological system during homeostasis and injury
Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
research In Silico Promoter Motif Analysis of Human Fertility-Related Genes
The study found potential new DNA patterns in fertility genes, but further testing is needed.
research Paracrine Secreted Frizzled-Related Protein 4 Inhibits Melanocytes Differentiation in Hair Follicle
A protein called sFRP4 from skin cells stops the development of pigment-producing cells in hair.
research Combination of an engineered Lactococcus lactis expressing CXCL12 with light‐emitting diode yellow light as a treatment for scalded skin in mice
The combined treatment with engineered bacteria and yellow LED light improved wound healing in mice.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research Genome-Wide Association Study for Udder Conformation Traits in Chinese Holstein Cattle
Certain genes affect udder shape in Holstein cows, important for health and milk production.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Automatic alignment of double optical paths in excimer laser amplifier
Researchers created a system that accurately aligns laser beams automatically.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research NAC transcription factor RD26 is a regulator of root hair morphogenic plasticity
RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.