research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
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research Hair growth promoting effects of adipose tissue-derived stem cells
This review discusses the paracrine effects of adipose tissue-derived stem cells on surrounding cells and tissues, noting their potential therapeutic benefits, but reports no new clinical results.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
research Finasteride 98319‐26‐7
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
research Search for the Crucial Extracellular Nucleotide Receptor: Kinase Receptor DORN1’s Role in the eATP and eADP Stomatal Signaling Pathways in Arabidopsis thaliana
This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
research The Auxin-Regulated CrRLK1L Kinase ERULUS Controls Cell Wall Composition during Root Hair Tip Growth
This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
research The Naked (N) Mutation, Chromosome 15
This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
research The structure of hair and follicles of mice carrying the naked (N) gene
In this study, researchers observed that mice with the naked gene showed frequent absence of hair cuticle and cortical cells during follicle growth, with abnormal keratin deposition also noted.
research OR2AT4, an Ectopic Olfactory Receptor, Suppresses Oxidative Stress-Induced Senescence in Human Keratinocytes
In this study, sandalore was found to activate OR2AT4, which inhibits senescent cell traits and restores proliferation in human keratinocytes, suggesting potential anti-aging applications.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
research finasteride, n.
research Copy number variation regions in Nellore cattle: Evidences of environment adaptation
This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.
research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
research 495 OR2AT4 activation by a synthetic odorant, stimulates dermcidin production in human hair follicle epithelium and increases follicular resistance to bacterial contamination: A novel antimicrobial folliculitis therapy?
This study suggests that stimulating olfactory receptors in human hair follicles with Sandalore® increases antimicrobial activity by upregulating dermcidin production, potentially offering a novel approach for treating hair follicle diseases with bacterial issues.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
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 The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
research Efficacy of topical nanoemulsion (NB-002) for the treatment of distal subungual onychomycosis: A randomized, double-blind, vehicle-controlled trial
NB-002 is a promising new topical treatment for fungal nail infections, showing better results than a non-medicated option.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
research Application of 2-Chloro-7-Nitrobenzo-2-Oxa-1, 3-Diazol (NBDCL) for Spectrophotometric Determination of Finasteride in Pharmaceutical Formulation
This study developed a new spectrophotometric method to accurately measure finasteride levels in pharmaceutical formulations using a reaction with NBD-CL.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.