research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
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30-60 / 1000+ resultsresearch Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Murine Cytomegalovirus is Not Associated With Alopecia Areata in C3H/HeJ Mice
Murine cytomegalovirus does not cause alopecia areata in these mice.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
research A 32‐year‐old woman with arthralgias and severe hypotension
Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.