research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
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510-540 / 549 resultsresearch Independent Genomewide Screens Identify the Tumor Suppressor VTRNA2-1 as a Human Epiallele Responsive to Periconceptional Environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Activation of Polyamine Catabolism Profoundly Alters Tissue Polyamine Pools and Affects Hair Growth and Female Fertility in Transgenic Mice Overexpressing Spermidine/Spermine N1-Acetyltransferase
Overexpressing a specific enzyme in mice causes hair loss and female infertility.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Structure and Expression of Genes for a Class of Cysteine-Rich Proteins of the Cuticle Layers of Differentiating Wool and Hair Follicles
Researchers found genes for cysteine-rich proteins that form the protective layer of hair in humans and sheep.
research The Genetics Of Alopecia Areata: New Approaches, New Findings, New Treatments
New genetic discoveries may lead to better treatments for alopecia areata.
research Quantification of the Vitamin D Receptor-Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
research Detection of Circular RNA Expression and Related Quantitative Trait Loci in the Human Dorsolateral Prefrontal Cortex
Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
research CRISPR/Cas9-Mediated Loss of FGF5 Function Increases Wool Staple Length in Sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Disruption of the Temporally Regulated Cloaca Endodermal β-Catenin Signaling Causes Anorectal Malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Evidence for 1,25-Dihydroxyvitamin D3-Independent Transactivation by the Vitamin D Receptor
The vitamin D receptor can work without its usual activating molecule.
research Expression of the Orphan Protein Plet-1 During Trichilemmal Differentiation of Anagen Hair Follicles
Plet-1 protein helps hair follicle cells move and stick to tissues.
research The Sheep KAP8-2 Gene, A New KAP8 Family Member That Is Absent In Humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
research DNA Damage-Inducible Transcript 4 Is an Innate Surveillant of Hair Follicular Stress in Vitamin D Receptor Knockout Mice and a Regulator of Wound Re-Epithelialization
Vitamin D receptor is important for regulating hair growth and wound healing in mice.
research A Novel Mutation in Hr Causes Abnormal Hair Follicle Morphogenesis in Hairpoor Mouse, an Animal Model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Epigenetic Age Estimation in Saliva and Buccal Cells
The model accurately predicts age from saliva and buccal cells for forensic use.
research The Circular RNA circNlgn Mediates Doxorubicin-Induced Cardiac Remodeling and Fibrosis
A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
research Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Restoration of Spermatogenesis and Male Fertility Using an Androgen Receptor Transgene
Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Efficacy of Metformin Therapy in Adolescent Girls with Androgen Excess: Relation to Sex Hormone-Binding Globulin and Androgen Receptor Polymorphisms
Metformin works better for adolescent girls with PCOS who have certain genetic variations.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
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 Sox2 in the Dermal Papilla Regulates Hair Follicle Pigmentation
Sox2 controls hair color by affecting pigment production in hair follicles.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research CSI on Steroids: Forensic DNA Phenotyping by Columbia Police Department
Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
research Regulation and Role of GLI1 in Cutaneous Squamous Cell Carcinoma Pathogenesis
GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
research Selection Signatures for Fiber Production in Commercial Species: A Review
Genomic research can help improve the quality and production of natural fibers in animals.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.