research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
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research Phosphatidylinositol‐specific phospholipase C2 functions in auxin‐modulated root development
A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
research Defective control of growth rate and cell diameter in tip-growing root hairs of therhd4mutant ofArabidopsis thaliana
The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research THE APPLICATION OF PARTITION CHROMATOGRAPHY TO THE SEPARATION OF RARE EARTH ELEMENTS
PCOS causes hormonal imbalances and health issues like infertility and heart disease.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Advancing mitochondrial therapeutics: Synthesis and pharmacological evaluation of pyrazole-based inhibitors targeting the mitochondrial pyruvate carrier
New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
research Identification and Expression of the Target Gene SLC24A2 of oar-miR-377 and Its Novel SNPs Effects on Wool Traits in Sheep
A specific genetic variation affects wool quality in sheep.
research Local Positive Feedback Regulation Determines Cell Shape in Root Hair Cells
Reactive oxygen species and calcium create a feedback loop that shapes root hair cells.
research Functional identification of the phosphorylation sites of Arabidopsis PIN-FORMED3 for its subcellular localization and biological role
Phosphorylation of certain parts of the PIN3 protein is crucial for its role in plant root growth and response to gravity.
research Feronia: A Malectin-Like Domain-Containing Receptor Kinase in Arabidopsis Thalina
FERONIA is crucial for plant growth, pollen tube reception, and sugar signaling.
research PRF Lysates Modulate Chemokine Expression in Oral Squamous Carcinoma and Healthy Epithelial Cells
PRF lysates reduce inflammation in cancer cells and boost immune response in healthy oral cells.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Reproduction of the human relevant potency threshold (HRPT) for estrogen receptor alpha agonism in an inference performance screen for ICCVAM’s regulatory scientific confidence framework
A new method effectively predicts estrogen-related health effects for early screening.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research Strontium Ranelate Promotes Chondrogenesis Through Inhibition of the Wnt/β-catenin Pathway
Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
research Evidence that mirex promotes a unique population of epidermal cells that cannot be distinguished by their mutant Ha-ras genotype
Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
research Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood
CTIP2 may help in skin development and maintenance.
research NAC transcription factor RD26 is a regulator of root hair morphogenic plasticity
RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
research VDAC2 Mediates the Apoptosis of Cashmere Goat Hair Follicle Stem Cells Through the P53 Signaling Pathway
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research TMPRSS2, required for SARS-CoV-2 entry, is downregulated in lung cells by enzalutamide, a prostate cancer therapeutic
A prostate cancer drug can lower the levels of a protein that the coronavirus uses to enter lung cells.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research In situ detection of retinoid-X receptor expression in normal and psoriatic human skin
RXR-alpha is strongly expressed in both normal and psoriatic skin and may help in skin cell differentiation and hair growth.
research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
TRPS1 is crucial for bone, kidney, and hair follicle development.
research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.