research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
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research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Twist1 is required for the development of UVB‐induced squamous cell carcinoma
Twist1 is crucial for UVB-induced skin cancer development.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
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 Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Oncogenic Kras induces spatiotemporally specific tissue deformation through converting pulsatile into sustained ERK activation
The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research Exploring Variation in Ovine KRTAP19-5 and Its Effect on Fine Wool Fibre Curvature in Chinese Tan Sheep
The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
research Mrp3, a Mitogen-Regulated Protein/Proliferin Gene Expressed in Wound Healing and in Hair Follicles
Mrp3 may aid in wound healing and hair growth.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research ER71/ETV2 Promotes Hair Regeneration from Chemotherapeutic Drug-Induced Hair Loss by Enhancing Angiogenesis
The protein ER71/ETV2 helps regrow hair after chemotherapy by improving the growth of new blood vessels.
research Keratin 17 modulates hair follicle cycling in a TNFα-dependent fashion
Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.
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.