research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
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research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research International Meeting – Rome
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research Characterisation of Three Ovine KRTAP13 Family Genes and Their Association with Wool Traits in Chinese Tan Sheep
An allele of the KRTAP13-2 gene may improve wool quality in sheep.
research Supplementary figure S2
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 Homology Modeling of 5-alpha-Reductase 2 Using Available Experimental Data
Accurate protein modeling can help develop new treatments for prostate cancer and other diseases.
research Specific inhibition of FGF5-induced cell proliferation by RNA aptamers
RNA aptamers can specifically block FGF5-related cell growth, potentially treating related diseases or hair disorders.
research Safety and efficacy of tavaborole (AN2690), a novel boron-based molecule, in 3 phase II trials for the topical treatment of toenail onychomycosis
Tavaborole is a safe and effective toenail fungus treatment, with the 5% solution being the best option.
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Co-editor’s note
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research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Message from Paul J. McAndrews, Program Chair of the 2010 Annual Meeting
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research Message from Paul J. McAndrews, Program Chair of the 2010 Annual Meeting
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research Report from the Chair of the Media Relations Committee
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research OsCSLD1 Mediates NH4+-Dependent Root Hair Growth Suppression and AMT1;2 Expression in Rice (Oryza sativa L.)
CSLD1 suppresses rice root hair growth with NH4+ and regulates AMT1;2 expression.
research In Vitroandin VivoStructure-Activity Relationships of Novel Androgen Receptor Ligands with Multiple Substituents in the B-Ring
Certain changes to the B-ring of androgen receptor ligands can increase their effectiveness for potential treatments of muscle and bone conditions.
research Evidence for two independent functional variants for androgenetic alopecia around the androgen receptor gene
Two gene areas linked to male pattern baldness found, more research needed.
research A liquid chromatography/tandem mass spectrometry method for determination of aristolochic acid‐I in rat plasma
A reliable method was developed to measure aristolochic acid-I in rat blood.
research Sequence-structure based phylogeny of GPCR Class A Rhodopsin receptors
The research found how GPCR Class A Rhodopsin receptors are related and suggested possible substances they interact with.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research MYB30 and ETHYLENE INSENEITIVE3 antagonistically regulate root hair growth and phosphorus uptake under phosphate deficiency in Arabidopsis
MYB30 and EIN3 work against each other to control root hair growth and phosphorus uptake in plants when phosphate is low.
research Prefrontal 5α-reductase 2 mediates male-specific acute stress response
5α-reductase 2 is crucial for stress response in male rats.
research Alfatradiol/minoxidil/trichofoam
research The Androgen Receptor and Its Use in Biological Assays: Looking Toward Effect-Based Testing and Its Applications
Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Testosterone up-regulates vacuolar ATPase expression and functional activities in vas deferens of orchidectomized rats
Testosterone increases acidification in the vas deferens by up-regulating V-ATPase.