research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
Search
for
Sort by
Research
630-660 / 1000+ results
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT helps understand single-cell gene expression better than current methods.
research Allosteric interactions prime androgen receptor dimerization and activation
Certain interactions help prepare the androgen receptor for pairing and activation, which is important for its role in development and disease.
research ALOPECIA AREATA PROFILING SHOWS LNCRNAS REGULATE THE SUPPRESSED EXPRESSION OF KERATIN.
Certain RNAs may help diagnose alopecia areata by affecting keratin genes.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Analysis of Gene Expression in Isolated Single Hair Follicles: An Approach Using Semiquantitative Reverse-Transcriptase—Polymerase Chain Reaction
Researchers developed a new way to measure gene activity in single hair follicles and found that a specific gene's activity changes with different amounts and times of treatment.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research 551 Combining Laser Capture Microdissection and RNAseq Analysis to Generate a Human Anagen Hair Follicle Transcriptome Atlas
Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research (Un)targeted Scanning of Locks of Hair for Drugs of Abuse by Direct Analysis in Real Time–High-Resolution Mass Spectrometry
A new method can quickly and accurately detect drugs in hair.
research Colour Dilution Alopecia (CDA) in Ten yorkshire Terriers
Yorkshire Terriers with Colour Dilution Alopecia have reduced melanin and hair structure issues.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research EDA and EDAR expression at different stages of hair follicle development in cashmere goats and effects on expression of related genes
EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
research Response to Park et al. on the Clinical Use of Hair Diameter Diversity in Androgenetic Alopecia
Hair diameter diversity could improve androgenetic alopecia assessment and treatment planning.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research An evaluation of the RapidHIT™ ID system for hair roots stained with Diamond™ Nucleic Acid Dye
The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
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 PRAME Expression in Mammary and Extramammary Paget Disease
PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration
The document's conclusion cannot be provided because the document is not available for analysis.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Exploring the Potential of DALL-E 2 in Pediatric Dermatology: A Critical Analysis
DALL-E 2 is only accurate for acne in pediatric dermatology and needs better data for other conditions.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Gene expression profiling suggests severe, extensive central centrifugal cicatricial alopecia may be both clinically and biologically distinct from limited disease subtypes
Severe CCCA may be biologically and clinically different from milder forms.