research The Fraser Complex Proteins Can Form Anchoring Cords Without AMACO at the Dermal-Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
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research A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Variation In The Ovine Keratin-Associated Protein 15-1 Gene Affects Wool Yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research Hypotrichosis With Juvenile Macular Dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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 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 Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Epithelial-Mesenchymal Interactions Promote Hair Follicle Neogenesis and a New Stem Cell Niche in Adult Corneal Epithelium
Adult hair follicle cells can create new hair follicles from corneal cells with the right support.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research Vitamin D Receptor-Mediated Control of Soggy, Wise, and Hairless Gene Expression in Keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research OsUEV1B, a Ubc Enzyme Variant Protein, Is Required for Phosphate Homeostasis in Rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Elucidating the Roles of Three β-Glucuronosyltransferases Acting on Arabinogalactan-Proteins Using a CRISPR-Cas9 Multiplexing Approach in Arabidopsis
The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Screened of Long Non-Coding RNA Related to Wool Development and Fineness in Gansu Alpine Fine-Wool Sheep
Long non-coding RNAs help regulate wool fineness in Gansu alpine fine-wool sheep.
research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Signature Selection Analysis Reveals Candidate Genes Associated With Production Traits in Iranian Sheep Breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research Recent Discoveries and Developments of Androgen Receptor-Based Therapy for Prostate Cancer
New treatments for prostate cancer are less toxic and show promise, but more research is needed to enhance their effectiveness and reduce side effects.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.