research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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570-600 / 1000+ resultsresearch Copper and calcium uptake in colored hair
Hair coloring increases copper and calcium uptake, damaging hair and reducing shine.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Analysis of the abnormal human hair keratins by two-dimensional polyacrylamide gel electrophoresis
research Ectopic acanthosis nigricans at a post-syndactyly surgical site: An unusual reactive epidermal phenomenon
Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles
SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
research Canities Subita after Extreme Trauma Showing Positive Staining for Anti-PD-L1 Antibodies: A New Clue into Etiopathogenesis?
Sudden hair whitening may be linked to immune system activity.
research Differential Expression of Type I Hair Keratins
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple
A supernumerary nipple was correctly identified using dermoscopy, avoiding misdiagnosis.
research ULTRAVIOLET LIGHT-ENHANCED VISUALIZATION OF CUTANEOUS SIGNS OF CAROTENE AND VITAMIN A DIETARY DEFICIENCY
UV light makes skin signs of lack of carotene and vitamin A more visible.
research Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings
TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
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 “Anisotrichosis”: A novel term to describe pattern alopecia
The document suggests "anisotrichosis" as a new term for hair thickness variation in common baldness.
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 Rapid hair depigmentation in patient treated with pazopanib
Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
research The iron content of human hair. II. Individuals with disturbed iron metabolism.
research Dual Tumors — Trichoadenoma of Nikolowski and Melanocytic Naevi
A person had two different benign skin tumors, a trichoadenoma and melanocytic naevi, at the same time but in different places on the face.
research Hyperprogesteronismus infolge bilateraler Nebennierenrindenkarzinome bei einer Katze mit Diabetes mellitus
Adrenal tumors can cause high progesterone levels, mimicking symptoms of high cortisol.
research Pili Trianguli et Canaliculi Is a Defect of Inner Root Sheath Keratinization
The hair defect is due to abnormal inner root sheath keratinization.
research Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research Trichoscopy in Asian Patients
Asian patients show different trichoscopy features compared to Caucasians, like thicker hair and different alopecia signs.
research Optical evaluation of internal damage to human hair based on second near‐infrared window polarization microscopy
A new method using near-infrared light can effectively detect and analyze internal hair damage.
research Beyond the Epidermal-Melanin-Unit: The Human Scalp Anagen Hair Bulb Is Home to Multiple Melanocyte Subpopulations of Variable Melanogenic Capacity
The human scalp hair bulb contains different types of melanocytes with varying abilities to produce melanin.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research The substantial role of asymmetric hair follicle differentiation in determining hair shape with ethical/racial related diversity
Asymmetric hair follicle differentiation causes the unique shape of kinky hair.