research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
Search
for
Sort by
Research
180-210 / 1000+ results
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research Obesity and the skin: Skin physiology and skin manifestations of obesity
Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research The TFIID subunit TAF4 regulates keratinocyte proliferation and has cell-autonomous and non-cell-autonomous tumour suppressor activity in mouse epidermis
TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research The eye and the skin in endocrine metabolic diseases
Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Cyproterone Acetate: A Genotoxic Carcinogen?
Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research 136 Physiological function of Krox20 (Egr2) in epithelial stem cells
Krox20 is crucial for hair growth and maintaining skin stem cells.
research The Role of Extracellular Vesicles in Cutaneous Remodeling and Hair Follicle Dynamics
Tiny particles called extracellular vesicles could help with skin healing and hair growth, but more research is needed.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Signaling Involved in Hair Follicle Morphogenesis and Development
The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
research Exploring the “Thyroid–Skin Connection”: Concepts, Questions, and Clinical Relevance
Thyroid function affects skin health, with a complex interaction between the two.
research Role of Zinc in Mucosal Health and Disease: A Review of Physiological, Biochemical, and Molecular Processes
Zinc is vital for immune health, growth, and preventing diarrhea.
research Endocrine care of transpeople part I. A review of cross-sex hormonal treatments, outcomes and adverse effects in transmen
Testosterone therapy is generally safe for transmen, improves sexual function, and has manageable health risks with proper monitoring.
research Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin
sPLA2-X is crucial for normal hair growth and follicle health.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Biochemistry of epidermal stem cells
The review found that different stem cell types in the skin are crucial for repair and could help treat skin diseases and cancer.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Anti-Grey Hair Vitamin Deficiency in the Silver Fox
Lack of certain vitamins causes fur loss and greying in silver foxes.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.