research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
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research Feature identification of skin diseases and laser therapy with a portable optical coherence imaging system
A portable imaging system shows promise for diagnosing skin diseases and checking laser treatment effects.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Dodatek A: Model matematyczny AL/RC/ASE. Functional Androgen Axis (FOA) - wersja operacyjna v1.2
The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research 0955 Selective BET inhibition as potential hidradenitis suppurativa treatment
research 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
research Context-dependent effect of sPLA2-IIA induced proliferation on murine hair follicle stem cells and human epithelial cancer
sPLA2-IIA increases growth in hair follicle stem cells and cancer cells, suggesting it could be targeted for hair growth and cancer treatment.
research Intramembrane Proteolysis of Astrotactins
Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Patient experience in systemic lupus erythematosus: development of novel patient-reported symptom and patient-reported impact measures
New tools were created to help lupus patients report their symptoms and impacts more accurately.
research ISID1374 – Cell-cell interaction in the hair follicle niche in androgenetic alopecia.
research Making sense of measures of clinical signs for atopic dermatitis
The electronic version of the Dermatology Life Quality Index is as effective as the paper version, with most patients preferring it.
research Reduced SMAD2/3 activation independently predicts increased depth of human cutaneous squamous cell carcinoma
Lower SMAD2/3 activation predicts more severe skin cancer.
research Impact of electrical impedance spectroscopy on dermatologists' number needed to biopsy metric and biopsy decisions for pigmented skin lesions
Electrical impedance spectroscopy improves biopsy accuracy and efficiency for skin lesions.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Isoginkgetin, a natural biflavonoid from Ginkgo biloba, inhibits inflammatory response in endothelial cells via suppressing NF-κB activation
Isoginkgetin reduces inflammation in cells by blocking NF-κB activation.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Molecular expression associated with vibrissa follicle development and differentiation
Id proteins, especially Id2 and Id3, are crucial for hair follicle development and stem cell regulation.
research The lncRNA HOTAIR/EZH2 interaction inhibitor AC1Q3QWB (AQB) attenuates fibrotic SSc skin tissue re-modelling
AQB reduces harmful skin changes in systemic sclerosis.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Abstract 1489: Basal cell carcinomas express functional indoleamine 2,3-dioxygenase (IDO) which may confer immunoprotection
Basal cell carcinomas may use IDO to protect themselves from the immune system.
research 685 Modelling intrinsic and extrinsic cellular senescence in vitro with complex bioengineered human skin constructs
Bioengineered skin models aging well, useful for studying aging and testing treatments.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research THE IMPORTANCE OF TRANS-ESOPHAGEAL ECHOCARDIOGRAPHY IN DIAGNOSING LIBMAN-SACKS ENDOCARDITIS IN SYSTEMIC LUPUS ERYTHEMATOSUS: A CASE REPORT
Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
research Dysmorphic Concern Questionnaire: Greek Translation, Validation and Psychometric Properties
The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
research A green light emitting turn-on ionic liquid-based nano-optode for selective and sensitive detection of dextran sulphate
A new fluorescent material can detect dextran sulfate sodium, turning green when present, useful for forensic and environmental monitoring.