research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
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research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research Inducible cre-mediated N-ras activation and PTEN inactivation in transgenic mouse melanocytes requires keratinocyte hyperplasia to elicit a melanocyte pathology
Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Patient Profile and Treatment Characteristics of Early Ritlecitinib Initiators in the US
Ritlecitinib provides new treatment options for diverse alopecia areata patients.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is essential for proper hair structure and color.
research The evaluation of IL-4 intron 3 VNTR and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with Alopecia Areata: a case-control study
These specific gene polymorphisms are not linked to Alopecia Areata in Egyptians.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research Detection of lentiviral constructs for release testing of CAR- T cells using digital droplet PCR
The new ddPCR method reliably detects unwanted viruses in CAR-T cell products, ensuring their safety for patients.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research Molecular basis of androgen receptor diseases
Mutations in the androgen receptor gene cause various disorders.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Author response: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.