research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
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720-750 / 1000+ resultsresearch TRPV Channels in Osteoarthritis: A Comprehensive Review
TRPV channels are important in osteoarthritis and could be key to new treatments.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research The parathyroid hormone-related protein as a regulator of normal tissue functions
PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research 083 More Expression of IL-17 than IFN-γ from CD49a-negative Tissue-Resident Memory T (Trm) cells at the Hair Bulge and Hair Bulb Region in the Scalp of Chronic Alopecia Areata Patients according to the Foxp3+mTregs depletion
IL-17 and certain immune cells are linked to more severe alopecia areata.
research Treg–tissue cell interactions in repair and regeneration
Treg cells help repair and regenerate tissues by interacting with local cells.
research Targeted radionuclide therapy for head and neck squamous cell carcinoma: a review
Targeted radionuclide therapy shows promise for improving head and neck cancer treatment but needs more research.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Trastuzumab Induced Chemobrain, Atorvastatin Rescued Chemobrain with Enhanced Anticancer Effect and without Hair Loss-Side Effect
Atorvastatin reversed memory problems caused by cancer drug trastuzumab and improved its cancer-fighting abilities without causing hair loss.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Expression of TGF Beta Receptor 1 in Sika Deer Antler
TGF-β receptor 1 helps deer antlers grow by aiding skin and cartilage cell growth.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Corticotropin-releasing hormone inhibits autophagy by suppressing PTEN to promote apoptosis in dermal papilla cells
CRH can cause hair loss by promoting cell death in hair growth cells.
research Lack of androgen receptor transcriptional activity in human keratinocytes
Human keratinocytes do not naturally respond to androgens.
research Absence of vitamin D receptor (VDR)‐mediated PPARγ suppression causes alopecia in VDR‐null mice
Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
research Identification and characterization of an antisense RNA transcript (gfg) from the human basic fibroblast growth factor gene.
Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Class IIa HDAC4 and HDAC7 cooperatively regulate gene transcription in Th17 cell differentiation
HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research The Vitamin D Receptor Is Required for Activation of cWnt and Hedgehog Signaling in Keratinocytes
Vitamin D receptor is essential for hair growth signaling.
research Joint Public Review: TLR2 Regulates Hair Follicle Cycle and Regeneration via BMP Signaling
TLR2 is crucial for hair growth and regeneration, and boosting it can help prevent hair loss.
research 468 Use of calcitonin gene-related peptide monoclonal antibodies in patients with rosacea: An exploratory, comparative case series
CGRP MAbs treatment for migraines may also improve rosacea symptoms, but more research is needed to confirm its effectiveness and safety.
research The Circular RNA CircCOL1A1 Functions as a miR-149-5p Sponge to Regulate the Formation of Superior-Quality Brush Hair via the CMTM3/AR Axis
A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.