research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
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390-420 / 1000+ results research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research 128 Bimekizumab led to rapid & deep normalisation of molecular signatures associated with PASI sub-components, preceding clinical skin clearance
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Increased Prevalence of Bipolar Disorders in Hidradenitis Suppurativa: More Than a Striking Coexistence?
People with hidradenitis suppurativa are more likely to have bipolar disorder than those with psoriasis or without skin conditions.
research Multiscale spatial mapping of cell populations across anatomical sites in healthy human skin and basal cell carcinoma
The research created a detailed map of skin cells, showing that certain cells in basal cell carcinoma may come from hair follicles and could help the cancer grow.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinomas start in the skin and hair follicles.
research Follicular Hybrid Cyst With Isthmic-Catagen, Pilomatrical, and Syringocystadenoma Papilliferum Components
A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
research Unique Tumor Heterogeneity Within a Single Locally Advanced Basal Cell Carcinoma Resulting in Partial Response Despite Continuous Vismodegib Treatment
Different tumor cells in one basal cell carcinoma can cause mixed treatment responses, suggesting personalized treatment is needed.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research BMP2 and BMP7 play antagonistic roles in feather induction
BMP2 and BMP7 have opposite roles in feather formation.
research Systemic Vasculitis with Severe Cutaneous Manifestation as a Suspected Idiosyncratic Hypersensitivity Reaction to Fenbendazole in a Cat
A cat had a rare severe reaction to fenbendazole, but recovered with treatment.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research What's new in the pathogeneses and triggering factors of bullous pemphigoid
Bullous pemphigoid is influenced by genetic factors, immune cell dysfunction, aging, and triggers, with treatment often improving symptoms.
research ABHRS news
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research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research BUZZ : an essential gene for postinitiation root hair growth and a mediator of root architecture in Brachypodium distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research Botulinum toxin type A alleviates androgenetic alopecia by inhibiting apoptosis of dermal papilla cells via targeting circ_0135062/miR-506-3p/Bax axis
Botulinum toxin type A helps treat hair loss by stopping cell death in hair follicles through a process involving certain non-coding RNAs and a protein called Bax.
research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
research BMP2-mediated PTEN enhancement promotes differentiation of hair follicle stem cells by inducing autophagy
BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
research The role of B cell-activating factor system in autoimmune diseases: mechanisms, disease implications, and therapeutic advances
BAFF-targeted therapies can reduce autoimmune disease activity, but more research is needed for precise treatments.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.