research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
Search
for
Sort by
Research
570-600 / 1000+ resultsresearch Epithelial-Stromal Interactions in Basal Cell Cancer: The PDGF System
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research 50842 Mohs micrographic surgery for nail-unit squamous cell carcinoma
research Developing the Breast Utility Instrument to Assess Health-related Quality of Life and Preferences in Patients with Breast Cancer
The Breast Utility Instrument was developed to assess quality of life in breast cancer patients.
research Poster 250 Should We Offer Thoracic Medial Branch Block Instead of Thoracic Vertebroplasty for Pain Management?
Thoracic medial branch block may be a simpler and effective alternative to thoracic vertebroplasty for pain management.
research Characterization and expression analysis of KAP7.1, KAP8.2 gene in Liaoning new-breeding cashmere goat hair follicle
KAP7.1 and KAP8.2 genes are crucial for cashmere quality in goats.
research Dynamics of procollagen type 1 N-terminal propeptide in postmenopausal osteoporosis during bisphosphonate therapy and transcranial electrical stimulation
Transcranial electrical stimulation with bisphosphonates helps maintain bone collagen better than bisphosphonates alone.
research Pemphigus Vulgaris IgG and Methylprednisolone Exhibit Reciprocal Effects on Keratinocytes
Methylprednisolone helps skin cells stick together better in pemphigus vulgaris.
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.
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Diagnostic Value of VDR in Bone Metastasis and Prognosis of Patients with Breast Cancer and Expression Correlation between Vitamin D Receptor and Hairless Protein
Low Vitamin D receptor levels in breast cancer are linked to worse outcomes and more bone metastases, and could be a marker for prognosis.
research Real-world single-center experience with 10 cases of generalized pustular psoriasis successfully treated with ixekizumab
Ixekizumab effectively treats generalized pustular psoriasis.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
research SODIUM VALPROATE IN the TREATMENT of RESISTANT EPILEPSY
Sodium valproate reduced seizures in many patients with resistant epilepsy.
research Relationship between helicobacter pylori infection and pityriasis versicolor: can helicobacter pylori infection be a new etiologic factor for pityriasis versicolor?
There may be a link between Helicobacter pylori infection and the skin condition pityriasis versicolor.
research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?
Identical p53 gene mutations in different cancers suggest the need for careful treatment.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
research PUVA treatment of alopecia areata totalis and universalis: A retrospective study
PUVA treatment led to significant hair regrowth in over half of the patients with alopecia areata totalis and universalis.
research 838 Histologic and immunohistochemical evaluation of Lichen Planopilaris and correlation with clinical disease severity
The study found a link between the severity of Lichen Planopilaris seen by doctors and the details seen under a microscope, and created a new way to measure this severity.
research SnapshotDx Quiz: January 2021
Papulopustular rosacea is an inflammatory skin condition treatable with lifestyle changes and medications.
research Photoacoustic imaging for prostate brachytherapy
Photoacoustic imaging can detect prostate brachytherapy seeds better with enhanced contrast methods, but depth limits remain.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Expression of the bcl-2 Protooncogene in the Cycling Adult Mouse Hair Follicle
research Patients' Illness Perception as a Tool to Improve Individual Disease Management in Primary Cutaneous Lymphomas
Understanding patients' views on their illness can help improve their disease management.
research 1117 PX-12 inhibits NLRP3 inflammasome activation to treat psoriasis
PX-12 may help treat psoriasis by blocking inflammation and cell death.