research Tissue regenerative delays and synthetic lethality in adult mice after combined deletion of Atr and Trp53
Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
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research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Piecing together the pigment-type switching puzzle
The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
research 177 Chronic graft-versus-host disease exhibits distinct Th1-skewing and barrier abnormalities in the skin
Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Expression of Desmoglein 1 Compensates for Genetic Loss of Desmoglein 3 in Keratinocyte Adhesion
Desmoglein 1 can partly make up for the loss of Desmoglein 3 in hair adhesion but not in mucous membranes.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Image2.TIF
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Differential transcriptome study on the damage of testicular tissues caused by chronic infection of T. gondii in mice
Chronic T. gondii infection may harm male fertility.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Retinol Esterification by DGAT1 Is Essential for Retinoid Homeostasis in Murine Skin
DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
research METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Effects of TGFBR1 on Proliferation of Dermal Papilla Cells in Fine-Wool Sheep
TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
research Graft versus host disease–like: A new paraneoplastic syndrome
A woman with thymoma developed a rare chronic condition similar to graft versus host disease after surgery.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Fibromodulin-Deficiency Alters Temporospatial Expression Patterns of Transforming Growth Factor-β Ligands and Receptors during Adult Mouse Skin Wound Healing
Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
research Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
research CD80CD86 deficiency disrupts regulatory CD4+FoxP3+T cell homoeostasis and induces autoimmune-like alopecia
CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.