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
690-720 / 1000+ resultsresearch Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Comprehensive transcriptome data to identify downstream genes of testosterone signalling in dermal papilla cells
The research identified genes and non-coding RNAs in cells that could be affected by testosterone, which may help understand hair loss and prostate cancer.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice
The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Perspectives of Alopecia behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Generation of Pax1/PAX1-Specific Monoclonal Antibodies
Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
research 0882 Patterning and regional specification of hairy skin
Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research Characterizing the cellular diversity and molecular signatures within the hair follicle dermal stem cell lineage
Unique genes in hair follicle cells help tissue regeneration.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research In silico analysis of gene expression data from bald frontal and haired occipital scalp to identify candidate genes in male androgenetic alopecia
Found 32 genes linked to male baldness, affecting hair growth and stress-related pathways.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Vitamin D activates type A natriuretic peptide receptor gene transcription in inner medullary collecting duct cells
Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
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 Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Telogen elongation in the hair cycle of ob/ob mice
Obese mice with a leptin gene mutation have a longer resting phase in their hair cycle, which may help understand certain hair loss conditions.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research DNA Methylation Mediates lncRNA2919 Regulation of Hair Follicle Regeneration
DNA methylation controls lncRNA2919, which negatively affects hair growth.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research MicroRNA-181a Targets GNAI2 and Affects the Proliferation and Induction Ability of Dermal Papilla Cells: The Potential Involvement of the Wnt/β-Catenin Signaling Pathway
MicroRNA-181a slows sheep hair growth by targeting GNAI2 and affecting a key growth pathway.