research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
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30 / 1000+ results research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research MIM and Cortactin Antagonism Regulates Ciliogenesis and Hedgehog Signaling
MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
research The hair growth promoting effect of 4-O-methylhonokiol
4-O-methylhonokiol from Magnolia officinalis significantly promotes hair growth.
research Poster 147 Determination of Individual in Vivo Hip Muscle Forces Using an EMG‐to‐Force Processing Model
The EMG-to-force model accurately predicts hip muscle forces during walking.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Epidermal Polarity Genes in Health and Disease
Disruptions in epidermal polarity genes can lead to skin diseases.
research Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity
Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
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.
research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters
MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
research Characterization of Primary Cilia and Intraflagellar Transport 20 in the Epidermis
Ift20 is essential for hair follicle function and skin cell movement.
research Drug Repurposing Patent Applications July–September 2025
New drug uses show promise but need more research.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Primary cilia regulate Meibomian glands development and dimensions without impairing lipid composition of the meibum
Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Acanthosis nigricans and the metabolic syndrome
Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
research Group IID, IIE, IIF and III secreted phospholipase A2s
Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
research Molecular pathology of skin adnexal tumours
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research 1330 Flexible fate determination ensures robust differentiation in the skin hair follicle
Hair follicle stem cells can change their role to ensure proper hair development.
research 1328 HIF1A stabilisation in the human hair follicle promotes glycolysis
Stabilizing HIF1A in hair follicles increases glycolysis, which may help reduce oxidative stress and support hair growth.
research 1332 Understanding the role of glycogen metabolism in human hair follicle biology
Glycogen metabolism is important for energy and processes in human hair follicles, and hair follicles may produce glucose from lactate.
research Abstracts from the ASA 40thAnnual Meeting
HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.