research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
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research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research A Review on Tectona Grandis
Teak is a durable, termite-resistant wood with medicinal benefits.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Enzymes
Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Eph Receptors and Ephrins: Therapeutic Opportunities
Eph receptors and ephrins may be promising targets for treating diseases, but more understanding is needed for effective and safe therapies.
research The Notch Intracellular Domain Has an RBPj-Independent Role During Mouse Hair Follicular Development
The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
research Analysis Of The Function Of ADAM17 In IRhom2 Curly-Bare And Tylosis With Esophageal Cancer Mutant Mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Impaired Notch-MKP-1 Signalling in Hidradenitis Suppurativa: An Approach to Pathogenesis by Evidence from Translational Biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Hair Follicle Aging Is Driven by Transepidermal Elimination of Stem Cells via COL17A1 Proteolysis
Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.
research N-Terminal Functional Domain of Gasdermin A3 Regulates Mitochondrial Homeostasis via Mitochondrial Targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Calcium Regulation of Stem Cells
Calcium is important for stem cell function and maintenance, especially in blood and skin cells.
research Acyl-CoA Binding Protein and Epidermal Barrier Function
ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.
research Protein Kinase C Is a Key Target for Attenuation of Leigh Syndrome by Rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Alopecia in Harlequin Mutant Mice Is Associated with Reduced AIF Protein Levels and Expression of Retroviral Elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research Delayed Hair Cycle in Mnd2 Mutant Mice Lacking HtrA2 Serine Protease Activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Controlling Hair Loss by Regulating Apoptosis in Hair Follicles: A Comprehensive Overview
Regulating cell death in hair follicles can help prevent hair loss and promote hair growth.
research Androgenetic Alopecia: A Review
Male pattern baldness involves genetics, hormones, and needs better treatments.
research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
Six new genetic regions linked to early hair loss also connect to Parkinson's disease and prostate cancer, possibly leading to new treatments.
research What Causes Hidradenitis Suppurativa?—15 Years After
Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Complementary and Alternative Treatments for Alopecia: A Comprehensive Review
Some alternative treatments for hair loss might work, but more research is needed.