research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
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research A trichobezoar in a child with undiagnosed celiac disease: A case report
A gluten-free diet stopped a child's hair-eating behavior and suggested she had celiac disease.
research Loss of Dicer in Newborn Melanocytes Leads to Premature Hair Graying and Changes in Integrin Expression
Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research LGR5 is a Marker of Poor Prognosis in Glioblastoma and is Required for Survival of Brain Cancer Stem‐Like Cells
High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
research Retardation of Hair Follicle Development by the Deletion of TrkC, High-Affinity Neurotrophin-3 Receptor
Lack of TrkC receptor delays hair follicle development.
research Granuloma Annulare Mimicking Alopecia Mucinosa in a Child: An Atypical Presentation
Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Total Glucosides of Paeony Capsule Plus Compound Glycyrrhizin Tablets for the Treatment of Severe Alopecia Areata in Children: A Randomized Controlled Trial
TGPC plus CGT is effective and safe for treating severe alopecia areata in children.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Overexpression of insulin-like growth factor-1 induces hyperplasia, dermal abnormalities, and spontaneous tumor formation in transgenic mice
Overexpressing IGF-1 in mice leads to skin abnormalities and tumors.
research Hair Dye as a Potential Trigger for Relapse of Anti-GBM Disease: A Case Report
Hair dye may trigger anti-GBM disease relapse, and rituximab can help manage it.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research G4, is a new transgenic mouse model for the polycystic ovaries syndrome
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research Mitochondrial deoxyguanosine kinase depletion induced ROS causes melanocyte stem cell exhaustion and hair greying
Lack of a certain enzyme causes hair to grey early by damaging stem cells, but an antioxidant can help prevent this.
research The GPR30 agonist G-1 promotes hair growth via Wnt/Hedgehog signaling in mice
G-1 promotes hair growth in female mice by activating specific signaling pathways.
research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Targeted Overexpression of the Angiogenesis Inhibitor Thrombospondin-1 in the Epidermis of Transgenic Mice Prevents Ultraviolet-B-Induced Angiogenesis and Cutaneous Photo-Damage
Overexpressing thrombospondin-1 in mice skin prevents UVB-induced skin damage.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
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.