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research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
research 44096 Efficacy in Subgroups related to Disease Characteristics in Patients with Alopecia Areata from BRAVE-AA1 and BRAVE-AA2
This abstract introduces baricitinib as an approved treatment for adults with severe alopecia areata in the US, Europe, and Japan, but does not report any specific study results or findings.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
research Newly formed Asian Association of Hair Restoration Surgeons (AAHRS)
This abstract reports the founding of the Asian Association of Hair Restoration Surgeons in Bangkok during a 2010 workshop, with no clinical research results presented.
research AabHLH112, a bHLH transcription factor, positively regulates sesquiterpenes biosynthesis in Artemisia annua
This study found that the AabHLH112 transcription factor positively regulates the biosynthesis of β-caryophyllene, epi-cedrol, and β-farnesene in Artemisia annua.
research A(1-7) reduces pathologies associated with SLE in MRL-lpr mice
In this study, daily treatment with angiotensin (1-7) significantly reduced disease severity in a mouse model of Systemic Lupus Erythematosus, suggesting potential for Mas agonists in future therapies.
research 268 Use of ultra-fast one-step CK5 ihc for identifying bcc and scc during mohs surgery
This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
research 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
research Reply
AUC and APL are distinct conditions needing careful clinical assessment.
research Hyaluronic acid: elucidating its penetration into, and effect on hair fibers using confocal Raman spectroscopy and biometric techniques
This study found that a blend of low- and high-molecular weight hyaluronic acid significantly improved penetration into the hair cortex compared to individual HA types, reducing frizz and increasing hair elasticity and water content, as measured by Confocal Raman Spectroscopy.
research Effect of Hataedock Treatment on Epidermal Structure Maintenance through Intervention in the Endocannabinoid System
This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
research Clinical and molecular genetic studies in hereditary hair loss
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
research Male pattern hair loss - rh79g
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
research A different hair restoration meeting: The WAHRS Live Surgery Workshop and Symposium
This article discusses the formation and goals of the World Association of Hair Replacement Surgeons, focusing on the exchange of advanced hair restoration surgery techniques, without presenting new research findings.
research Effectiveness and Safety of a New Hyaluronic Acid Injectable for Augmentation and Correction of Chin Retrusion
This study evaluated the safety and effectiveness of HASHA, a new hyaluronic acid injectable, for chin augmentation in adults with chin retrusion. HASHA significantly improved chin appearance and satisfaction over 12 months compared to controls, with only mild or moderate transient adverse events.
research BH21 Segmented heterochromia with calibre change: an under-recognized sign of alopecia areata
This case study describes an uncommon variant of coudability hair in alopecia areata, where intermittent inflammatory processes result in alternating bands of lighter color and reduced hair shaft calibre.
research 821 Pigmentation and autophagy in alopecia areata pathogenesis
This research explores the potential role of the Stx17 protein in hair pigmentation processes and Alopecia Areata, suggesting possible links to the disease's progression.
research Expression of anti-aging type-XVII collagen (COL17A1/BP180) in hair follicle-associated pluripotent (HAP) stem cells during differentiation
This study indicates that COL17A1 plays a crucial role in the differentiation process of hair-follicle-associated pluripotent stem cells.
research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep
This study suggests that the KAP 7 gene may serve as a potential molecular marker for genetic selection to improve staple length and greasy fleece weight in Rambouillet sheep.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.