research Primary vitreoretinal lymphoma masquerading as refractory uveitis—just go with the flow
Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
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research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Polydeoxyribonucleotides – the future of regenerative medicine
Polydeoxyribonucleotides may help with healing and anti-aging, but more research is needed.
research Evaluating purified exosome product and its role in neurologic and functional recovery following spinal cord injury in female rats
IT PEP may help recovery after spinal cord injury, but more research is needed.
research 702 dsRNA induces ectopic KRT9 expression via WNT/β-catenin-mediated signaling
Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
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 Drug repurposing of cyclin-dependent kinase inhibitors for neutrophilic acute respiratory distress syndrome and psoriasis
CDK inhibitors may help treat ARDS and psoriasis but need more testing for safety and effectiveness.
research Malicious Mites—Sarcoptes scabiei in Raccoon Dogs (Nyctereutes procyonoides) in Schleswig-Holstein, Germany
Raccoon dogs in Schleswig-Holstein, Germany, were found with sarcoptic mange, showing severe skin issues and potential for spreading the disease.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
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.
research Primary idiopathic pseudopelade of brocq: Five case reports
Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
research Treatment of Psoriasis vulgaris with a New Retinoic Acid Derivative Ro 10-9359
The treatment cleared psoriasis in some patients but caused side effects in most.
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 Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
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 Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Dermatitis Cruris Pustulosa et Atrophicans: Scarring Alopecia Beyond Scalp Hair
DCPA is a chronic skin condition affecting the legs, often misdiagnosed, and needs more research for better understanding and treatment.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Fibrotic enzymes modulate wound‐induced skin tumorigenesis
PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research NDA Submission of Vepdegestrant (ARV-471) to U.S. FDA: The Beginning of a New Era of PROTAC Degraders
Vepdegestrant may become the first FDA-approved PROTAC degrader, marking a new era in drug development.
research p53‐dependent transcriptional regulation of EDA2R and its involvement in chemotherapy‐induced hair loss
The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.