research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
Search
for
Sort by
Research
420-450 / 1000+ resultsresearch Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.
GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research FOXE1, A New Transcriptional Target of GLI2 Is Expressed in Human Epidermis and Basal Cell Carcinoma
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
research Determination of TG5 gene polymorphism and its influence on productivity traits of beef cattle reared in Lithuania
The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
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 A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
research A humanized IL-2 fusion protein enhances T regulatory cells in vivo and restrains disease in a murine model of Alopecia Areata 4760
A humanized IL-2 fusion protein boosts T regulatory cells and helps control hair loss in Alopecia Areata.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research TERT/BMI1-transgenic human dermal papilla cells enhance murine hair follicle formation in vivo
Adding TERT and BMI1 to certain skin cells can improve their ability to create hair follicles in mice.
research Pten loss in Lgr5+ hair follicle stem cells promotes SCC development
Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
research Reshaped DNA methylation cooperating with homoeolog‐divergent expression promotes improved root traits in synthesized tetraploid wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Role of Csdc2 in Regulating Secondary Hair Follicle Growth in Cashmere Goats
Csdc2 helps hair growth in cashmere goats by regulating specific genes.
research The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.