research Convergent Evolution of Cysteine-Rich Keratins in Hard Skin Appendages of Terrestrial Vertebrates
Cysteine-rich keratins evolved independently in mammals, reptiles, and birds for hard skin structures like hair, claws, and feathers.
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research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Learning from nudity: lessons from the nude phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research LncRNA-000133 from secondary hair follicle of Cashmere goat: identification, regulatory network and its effects on inductive property of dermal papilla cells
A newly found RNA in Cashmere goats may play a role in hair growth and development.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Exploring the application of dietary antioxidant index for disease risk assessment: a comprehensive review
A high dietary antioxidant index may lower the risk of various diseases, but more research is needed.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research The effects of oestrogens on linear bone growth
Oestrogens are key for bone growth during puberty in both boys and girls.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research Foxp3 Post-translational Modifications and Treg Suppressive Activity
Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
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 Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
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 Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Elucidating the roles of three β-glucuronosyltransferases (GLCATs) 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 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 The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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 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 Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Hair Loss in Autoimmune Cutaneous Bullous Disorders
Hair loss in autoimmune blistering skin diseases varies and may regrow with disease control.
research The effects of oestrogens on linear bone growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.