research miR-29 is an important driver of aging-related phenotypes
In this study, overexpression of miR-29 in mice led to aging-related phenotypes and early lethality, demonstrating its significant role in driving aging processes.
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research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
research NEURONAL MIMICRY AS A RESISTANCE PHENOTYPE IN CANCER CELLS
This study found that some cancer cells exhibit neuronal-like characteristics, which may serve as a mechanism of resistance.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
research A protocol for assessment of interventions using a computational phenotype for Long COVID
This study identified that manifestations of Long COVID can be detected through routine symptoms and diagnoses in electronic health records following COVID-19 admissions, as compared to non-COVID hospitalizations.
research What Is the Male Polycystic Ovary Syndrome Phenotype?
Men can have genetic risks for PCOS-related traits like obesity and diabetes.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
research 5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes
In this study, manipulation of the enzyme 5α-reductase type 2 in human hepatocytes altered lipogenesis, suggesting clinical implications for patients using 5α-reductase inhibitors by affecting glucocorticoid action on hepatic lipid metabolism.
research Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research SCA-1+ Cells with an Adipocyte Phenotype in Neonatal Mouse Skin
Sca-1+ cells in newborn mouse skin may become fat cells.
research Persistently curly hair phenotype with the use of nivolumab for squamous cell lung cancer
In this study, the first case of a persistent curly hair phenotype was reported with nivolumab treatment in a patient with metastatic squamous cell lung cancer.
research Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice
This study observed that while betaine supplementation decreases total homocysteine and increases methionine levels in a mouse model of CBS deficiency, it is not as effective as methionine restriction in reversing associated phenotypes.
research Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity
This review emphasizes the importance of considering race and ethnicity-specific factors in diagnosing and treating polycystic ovary syndrome (PCOS) and calls for diagnostic criteria tailored to these differences.
research Increased anxiety‐like phenotype in female guinea pigs following reduced neurosteroid exposure in utero
This study observed that reduced in utero exposure to the neurosteroid allopregnanolone increased anxiety-like behavior in female guinea pigs during the juvenile period without affecting long-term allopregnanolone levels.
research Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice
This study found that restoring hypothalamic NPY levels in mice delayed aging-related characteristics such as fat loss, hair loss, and memory decline, suggesting that maintaining these levels could be important for counteracting aging and its effects.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
research Comprehensive Survey of Gut Microbiome Associations with Health Conditions in the Human Phenotype Project
This research found significant associations between gut microbiome composition and 14 out of 37 examined health conditions, suggesting that increased microbial abundance often aligns with favorable health states.
research Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
This study found that Wnt secretion is important for skin homeostasis in mice, as Evi-deficient mice developed skin lesions resembling psoriasis and showed immune cell imbalance.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Spectrum of Phenotypes Associated with Human MC1R Variations
This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
research The TRPM5 Antagonist Triphenylphosphine Oxide Increases Sebaceous Lipogenesis and Modulates Immune Phenotype of Human Sebocytes in a TRPM5‐Independent Manner
This study found that specific TRPM5 modulators are unlikely to directly affect sebaceous glands, but safe TPPO analogues may provide moderate lipogenic and anti-inflammatory effects beneficial for dry skin conditions.
research Diagnostic utility of serum anti-Müllerian hormone in different phenotypes of polycystic ovary syndrome: a case-control study from a tertiary care centre
This study found that serum Anti-mullerian hormone (AMH) levels are significantly elevated in women with polycystic ovary syndrome and can serve as a useful biomarker for diagnosis, especially when ultrasonography is unavailable.
research 652 Short cell cycle duration is a phenotype of human epidermal stem cells
Human epidermal stem cells divide faster than previously thought.
research 014 Tyrosine Kinase 2 Inhibition Ameliorates the Phenotype of Lesional Alopecia Areata Scalp Skin Ex Vivo, and Reverses the Induction of Human Alopecia Areata in a Humanized Mouse Model
This study observes that TYK2 inhibition with BMS-986202 may extend hair follicle growth phases and decrease inflammatory cell markers in alopecia areata, suggesting potential for clinical application.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
research Androgen Levels Do Not Predict PCOS Phenotypes in Adolescents and Young Adults
This study found that BMI was the only significant predictor of elevated androgen levels in adolescents with PCOS, and hyperandrogenemia was not linked to a specific PCOS phenotype.
research Iatrogenic androgenetic alopecia in a male phenotype 46XX true hermaphrodite
Hormone treatment caused hair loss, finasteride helped regrowth.
research Patient reported androgen driven phenotypes do not associate with biochemical recurrence after radical prostatectomy
This study found that self-reported androgen-driven phenotypes, like balding and finger length ratios, were not associated with cancer aggressiveness or biochemical recurrence in prostate cancer after prostatectomy.