research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
Search
for
Sort by
Research
150-180 / 1000+ results 
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research ZmSPL10, ZmSPL14 and ZmSPL26 act together to promote stigmatic papilla formation in maize through regulating auxin signaling and ZmWOX3A expression
ZmSPL10, ZmSPL14, and ZmSPL26 genes are essential for forming maize structures needed for pollen capture and kernel production.
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.
research Slug (Snai2) Expression during Skin and Hair Follicle Development
Slug (Snai2) helps regulate hair growth timing in mice.
![Patent Evaluation: Hexahydrobenzo[f]quinolines as 5α-Reductase Inhibitors](/images/assets/1634373b-f615-46c7-a157-21394e3366be/small/21095.jpg)
research Patent Evaluation: Hexahydrobenzo[f]quinolines as 5α-reductase inhibitors
Hexahydrobenzo[f]quinolines are effective at blocking the enzyme 5α-reductase.
research 414 A fitst-in-human study of BLZ-100 (tozuleristide) demonstrates tolerability and fluorescence contrast in skin cancer
BLZ-100 is safe for use in skin cancer surgery and may help identify cancerous tissue.
research Inhibition of lipogenesis and sebum secretion for Lotus corniculatus seed extract in vitro and in vivo
Lotus corniculatus seed extract reduces oily skin by decreasing sebum production.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Efficient delivery of transgenes to human hair follicle progenitor cells using topical lipoplex
research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin
mrp/plf-mRNA can indicate tumor-promoting effects in skin.
research Fluxactive Complete (#1 PREMIUM PROSTATE SUPPORT FORMULA) Managing Prostate Wellness And Bladder Functions!
research A High Throughput LC-MS Platform for the Discovery of Autotaxin Inhibitors
High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
research The Efficacy and Safety of Anlotinib Plus Etoposide with Cisplatin/Carboplatin in the First-Line Treatment of Lung Cancer: A Phase II Clinical Study
The treatment combination is effective and generally safe for lung cancer.
research Folliculocentric papules and alopecia
A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
research ORLISTAT
research A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research Solitary, subcutaneous, fixed, firm, and fast-growing nodule
A man had a non-cancerous, fast-growing skin lump on his arm that was removed with surgery.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Automated Monkeypox Identification from Electronic Medical Records Using Large Language Models — Shenzhen City, Guangdong Province, China, 2023–2025
Large language models can accurately identify monkeypox from medical records.
research Wavelength-encoded laser particles for massively-multiplexed cell tagging
New laser particles can track thousands of cells in 3D models, improving single-cell analysis.
research Limits of Visual Detection for Finasteride Polymorphs in Prepared Binary Mixtures: Analysis by X‐ray Powder Diffraction
research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Chronic Overlapping Pain Conditions and Nociplastic Pain
Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.