research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
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330-360 / 1000+ results research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB)
research A Look at the 6th Annual Live-Surgery Workshop
The document's conclusion cannot be provided because the document is not accessible or understandable.
research JID VisualDx Quiz: February 2013
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research The Two Functional Keratin 6 Genes of Mouse Are Differentially Regulated and Evolved Independently from Their Human Orthologs
Mouse keratin 6 genes evolved independently from human ones and are regulated differently.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research 703 Anti-aging potential of gypenosides fraction obtained from naturally grown Gynostemma pentaphyllum in Ulleungdo Island and its 7 new gypenosides
Gypenosides from Gynostemma pentaphyllum were found to have anti-aging effects, increasing skin collagen and reducing wrinkles.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Arginine Transferase Activity In Homogenates From Guinea-Pig Hair Follicles
research GRHL3 binding and enhancers rearrange as epidermal keratinocytes transition between functional states
GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
research Triton modified polyethyleneimine conjugates assembled with growth arrest-specific protein 6 for androgenetic alopecia transdermal gene therapy
The treatment effectively promotes hair regrowth in androgenetic alopecia without causing skin irritation.
research 0416 Involvement of calcinosis cutis in autoimmune connective tissue diseases
research Baricitinib as a treatment for myasthenia gravis: A case report
Baricitinib successfully treated myasthenia gravis and alopecia in a patient.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Decision letter: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for ion balance and proper plant cell function.
research 569 Hypoxic response of the expression of TGF-β2 and BMP4 in human dermal papilla cells
Low oxygen levels affect the behavior of certain proteins in human skin cells.
research AGD1, a class 1 ARF‐GAP, acts in common signaling pathways with phosphoinositide metabolism and the actin cytoskeleton in controlling Arabidopsis root hair polarity
AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research Molecular Cloning of 5′ Flanking Region of Ovine Keratin Associated Protein 6-1 Gene and Comparison of the Sequences
The research helps in creating genetically modified animals to study hair growth.