research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
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780-810 / 1000+ resultsresearch Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Advancing mitochondrial therapeutics: Synthesis and pharmacological evaluation of pyrazole-based inhibitors targeting the mitochondrial pyruvate carrier
New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Control by a hair’s breadth: the role of microRNAs in the skin
MicroRNAs play a crucial role in skin and hair health, affecting everything from growth to aging, and could potentially be used in treating skin diseases.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Whole-transcriptome RNA sequencing reveals global expression dynamics and ceRNA regulatory networks related to hair follicle development and melanogenesis in goats
Goats' hair and color traits are linked to specific RNA expressions, useful for breeding and textiles.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Drug repositioning approach to target viral and host cells in terms of COVID-19 treatment: A review of in vivo experiments and clinical studies
Repurposing existing drugs for COVID-19 shows promise but requires more research to confirm effectiveness.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Dermatological Manifestations of Pegylated Interferon alfa2a and Ribavirin Combination Therapy in Chronic HCV Patients
Most patients on this hepatitis C treatment experienced skin issues, especially hair loss.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research Analysis of lncRNAs Expression Profiles in Hair Follicle of Hu Sheep Lambskin
lncRNAs may regulate hair follicle development in Hu sheep.
research Studies on Reaction of Mimosine with Various Amines and Effects of Mimosine on Tyrosine Decarboxylation
Mimosine is toxic to animals, causing hair loss, infertility, and growth issues, but its exact harmful mechanism is unclear.
research Infectious Alopecia in a Dog Breeder After Renal Transplantation
A kidney transplant patient got a fungal infection from her dogs, but treatment improved her condition and hair grew back.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Editor's evaluation: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research The Effect of JAK Inhibitor on the Survival, Anagen Re-Entry, and Hair Follicle Immune Privilege Restoration in Human Dermal Papilla Cells
Ruxolitinib may help treat hair loss by reducing inflammation, promoting hair growth signals, and protecting hair follicle immunity.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.