research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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570-600 / 1000+ results research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in
research Morphological and Macromolecular Structure
research Morphological and Macromolecular Structure
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma
AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
research Trichohyalin: Purification from Porcine Tongue Epithelium and Characterization of the Native Protein
Trichohyalin, a protein from pig tongue, was purified and found to have a filamentous structure.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research The origin of citrulline-containing proteins in the hair follicle and the chemical nature of trichohyalin, an intracellular precursor
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research In vitro assembly properties of human type I and II hair keratins
research Chiton integument: Ultrastructure of the sensory hairs of Mopalia muscosa (Mollusca: Polyplacophora)
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome
Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Characterization of Mouse Profilaggrin: Evidence for Nuclear Engulfment and Translocation of the Profilaggrin B-Domain during Epidermal Differentiation
Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
research Expression of truncated latent TGF-β-binding protein modulates TGF-β signaling
Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
research Matriptase: Potent Proteolysis on the Cell Surface
Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
research Matrix-Degrading Type II Transmembrane Serine Protease Matriptase: Its Role in Cancer Development and Malignancy
Matriptase imbalance contributes to cancer development and spread.
research SIRT 7 activates quiescent hair follicle stem cells to ensure hair growth in mice
SIRT7 protein is crucial for starting hair growth in mice.
research TON1 recruiting motif 21 positively regulates the flavonoid metabolic pathway at the translational level in Arabidopsis thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Contribution à l'étude du lien entre Annonaceae et parkinsonisme : identification et quantification d'acétogénines par déréplication; métabolisation de phase I et approche de la distribution de l'annonacine
Thymosin β4 helps with healing, inflammation, and organ protection.
research New aspects of galectin functionality in nuclei of cultured bone marrow stromal and epidermal cells: biotinylated galectins as tool to detect specific binding sites
Galectin-1 helps in RNA processing in cell nuclei.