research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
Search
for
Sort by
Research
840-870 / 1000+ results 
research Autosomal recessive congenital ichthyosis due to PNPLA 1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research 176 Myeloid cell-specific deletion of mTOR suppresses psoriasis-like skin inflammation in C57BL/6 mice
Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Functional analysis of collagen XVII in epithelial cancers and a mouse model
Collagen XVII is important for cell functions and its absence can worsen cancer outcomes.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research 341 A longitudinal study of cutaneous dermatomyositis
Most patients with cutaneous dermatomyositis either improved or remained stable over 3.5 years.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research 26SCS-Loaded SilMA/Col Composite Sponge with Well-Arranged Layers Promotes Angiogenesis-Based Diabetic Wound Repair by Mediating Macrophage Inflammatory Response
The composite sponge helps heal diabetic wounds by reducing inflammation and promoting new blood vessel growth.
research Incidental Merkel Cell Carcinoma Encountered During Mohs Surgery
research Alopecia Areata, Primary Sclerosing Cholangitis, and Ulcerative Colitis: Autoimmunity and Apoptosis as Common Links?
The conditions alopecia areata, primary sclerosing cholangitis, and ulcerative colitis may be linked by shared autoimmune and cell death mechanisms.
research A case report of Graham-Little–Piccardi–Lassueur syndrome
A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.
research Interpenetrating gelatin/sodium alginate hydrogel with controlled PRP lysate delivery for accelerating diabetic wound healing with reduced scarring
The hydrogel speeds up diabetic wound healing and reduces scarring.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Editorial: Growth and Tissue Regeneration with focus on Proteoglycans
Proteoglycans are vital for tissue growth and healing, with potential as treatment targets.
research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research A Case of Systemic Lupus Erythematosus with Cutaneous Leukocytoclastic Vasculitis
A woman with lupus developed a rare skin condition, which improved with increased medication.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Sphingolipids of the Murine Hair
Murine hair has specific types of ceramides and glucosylceramides but lacks acylceramides.
research Phospholipase A2 in skin biology: new insights from gene-manipulated mice and lipidomics
Phospholipase A2 enzymes play key roles in skin health and disease.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
research Preparation and Characterization of Soluble Wool Keratin for Human Hair Care
CMADK reduces hair damage from bleaching and permanent waving.
research Bullous pyoderma gangrenosum occurring on a cesarean section scar
Bullous pyoderma gangrenosum can develop on cesarean scars and may require steroids for treatment.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Cutaneous Manifestations of the Acquired Immunodeficiency Syndrome Update 1987
AIDS patients often have specific skin conditions that help in early diagnosis and management.