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| http://dx.doi.org/10.2340/00015555-3592 | DOI Listing |
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Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity.
Clin Cosmet Investig Dermatol
January 2025
Lugansk state medical University, Department of Pathology, Rivne, Ukraine.
Introduction: Marie-Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by a specific pattern of hair loss. Initially described in 1925 by Marie-Unna in a German family spanning over seven generations, MUHH represents a previously unidentified form of congenital hypotrichosis. It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.
View Article and Find Full Text PDFPlacode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome.
iScience
January 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29425, USA.
Mutations in the human genes encoding the endothelin ligand-receptor pair and cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific mutation plus related genetic resources.
View Article and Find Full Text PDFA novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Hum Mol Genet
January 2025
Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.
View Article and Find Full Text PDFDynamics search of highly magnetized blood laden with copper-gold-titania nanoparticles in a ciliary artery with catheterization and entropy.
Electromagn Biol Med
January 2025
Department of Mathematics, University of Gour Banga, Malda, India.
Article Synopsis
- Biomagnetic fluid dynamics (BFD) focuses on the behavior of bio-fluids, like blood, impacted by magnetic fields, which is important for medical applications such as targeted medication delivery and tumor treatment.
- This study examines blood flow dynamics using trihybrid nanoparticles in a catheterized artery, factoring in various electromagnetic influences and propulsion mechanisms.
- Key findings include that increasing Hall and ion-slip parameters boosts blood velocity, modifies entropy generation, and shows that modified hybrid nano-blood forms smaller, more manageable clumps compared to pure blood, with longer cilia enhancing recovery of these clumps.
Evolution of long scalp hair in humans.
Br J Dermatol
January 2025
Department of Biomedical Engineering, College of Medicine and College of Engineering, National Taiwan University, Taipei, Taiwan.
The ability to grow long scalp hair is a distinct human characteristic. It probably originally evolved to aid in cooling the sun-exposed head, although the genetic determinants of long hair are largely unknown. Despite ancestral variations in hair growth, long scalp hair is common to all extant human populations, which suggests its emergence before or concurrently with the emergence of anatomically modern humans (AMHs), approximately 300 000 years ago.
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