research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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810-840 / 1000+ results research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
research Simultaneous Estimation of Finasteride and Tamsulosin Hydrochloride in Combined Dosage Forms by RP-HPLC-PDA Method
The method accurately measures Tamsulosin and Finasteride in medication and is suitable for regular quality checks.
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research 2,3,7,8‐Tetrachlorodibenzo‐p‐dioxin causes an increase in protein kinases growth hepatic associated with epidermal factor receptor in the plasma membrane
TCDD reduces EGF receptors in the liver, affecting growth and development.
research Polycystic ovarian syndrome: Proposal for an evidence -based management plan for an electronic patient record system
The project improved provider knowledge about PCOS but didn't significantly change diagnosis and management practices.
research Case Report: Pulsed electric field treatment of metastatic liver disease demonstrating a possible abscopal response
Pulsed electric field treatment may help shrink untreated liver tumors.
research Hair disorders
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research A Proposal from Steven C. Chang, MD
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research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
A new gene, JMJD1C, may affect testosterone levels in men.
research Genetic Polymorphisms of the 3'-Untranslated Regions (3'-UTR) of the HSP 70 Gene in Moa Buffalo (Bubalus bubalis)
Two genetic variations in Moa buffalo help them adapt to heat.
research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata
PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
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 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
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 Phase I safety and pharmacokinetic study of SU-014813 in combination with docetaxel in patients with advanced solid tumours
The drug combination was safe and showed promise in treating advanced tumors.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research P422 : Eruptive syringoma: an unusual presentation with androgenetic alopecia
A 25-year-old man had an unusual case of benign skin tumors and hair loss.
research Citrullinome of Porphyromonas gingivalis Outer Membrane Vesicles: Confident Identification of Citrullinated Peptides
Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.
research RP HPLC method for the determination of finasteride andtamsulosin in bulk and pharmaceutical formulations
The method accurately measures Finasteride and Tamsulosin in tablets without interference.
research Eosinophilic Pleuropericardial Effusion due to Valproic Acid
Valproic acid can cause a rare allergic reaction leading to fluid around the lungs and heart, which is treatable by changing medication.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.