research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
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research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
research Reviewer #1 (Public review): Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
research ラット精巣におけるビタミンD 代謝関連遺伝子の発現解析
The testes significantly contribute to vitamin D metabolism and may affect male reproductive health and conditions like hair loss.
research Association of Cyp11a Gene with Polycystic Ovarian Syndrome Patients in Lahore, Pakistan
The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Overexpression of HE4/WFDC2 gene in mice leads to keratitis and corneal opacity
Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
research Multifaceted roles of superoxide dismutases (SODs) in cellular homeostasis and cancer progression: Redox regulation and therapeutic implications
Superoxide dismutases help balance cell stress and may aid cancer treatment.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Selected abstracts from the 47th meeting of the Irish Endocrine Society Sligo, 24th & 25th November 2023
Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Twist2 contributes to skin regeneration and hair follicle formation in mouse fetuses
Twist2 is essential for scarless skin healing and hair growth in mouse fetuses.
research Cell death as an architect of adult skin stem cell niches
Cell death shapes skin stem cell environments, affecting inflammation, repair, and cancer.
research The G-Protein Couple Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
research Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Human and animal cells under influence of different lighting and stimulus
Different light affects cell functions and can help treat skin conditions.
research Twist2 contributes to skin regeneration and hair follicle formation in mouse fetuses
Twist2 is essential for proper skin healing and hair growth in developing mice.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Plant elicitor Peptides regulate root hair development in Arabidopsis
Peps help Arabidopsis plants grow more root hairs by affecting specific genes and calcium signaling.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research ADVANCES IN FUNCTIONAL NEUROSURGERY – MACHINE LEARNING, NEURAL ENGINEERING AND ROBOTICS IN TREATMENT OF NEURODEGENERATIVE DISORDERS
AI and robotics are improving treatment and monitoring of neurodegenerative disorders like Parkinson's.
research CECHY KLINICZNE PRZEBIEGU CHORÓB UKŁADU ODDECHOWEGO WYWOŁANYCH PRZEZ SARS-COV-2 U DZIECI Z ZACHODNICH REGIONÓW BIAŁORUSI
Urban children in western Belarus had more severe COVID-19 cases in 2021.
research A NEW GENERATION OF MARKERS FOR CANCER DETECTION AND DRUG TRANSPORT
New markers can detect tumors, aid drug delivery, and treat cancer effectively and safely.
research HOW AI CAN SUPPORT FOLLICULAR LYMPHOMA DIAGNOSIS
AI can help diagnose Follicular Lymphoma by accurately identifying specific cell types.