research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
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research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research ABHRS news
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research The JAK/STAT signaling pathway: from bench to clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research LB1048 Effectiveness of OR-101 in a murine model of atopic dermatitis
OR101 may effectively treat atopic dermatitis and similar skin conditions.
research Theoretical investigation on the construction of hair follicle membranes and the transdermal drug delivery mechanisms of JAK inhibitors via distinct pathways
JAK inhibitors can enter the skin through hair follicles using a unique pathway.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
research DNA Methylation‐Regulated ZDHHC17 Promotes the Risk of Facial Skin Aging
ZDHHC17 methylation may help treat or identify facial skin aging.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Surveillance dan Penyebaran Penyakit Tangan, Kaki, dan Mulut (HFMD)
Effective monitoring and prevention strategies are needed to manage the spread of hand, foot, and mouth disease in children.
research BMI1 is required for melanocyte stem cell maintenance and hair pigmentation
BMI1 is essential for preventing hair greying and maintaining hair color.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Introduction
research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Notices
research Unilateral Gynecomastia Induced by Treatment With 1 mg of Oral Finasteride
research 578 Addressing the missing components for appropriate surveillance of Merkel cell carcinoma patients: Detailed recurrence data and an integrated risk analysis approach
Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research A case of atopic dermatitis with alopecia universalis in a patient treated with abrocitinib
Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research JunB defines functional and structural integrity of the epidermo-pilosebaceous unit in the skin
JunB is crucial for maintaining healthy skin and hair follicles.
research Men with Kennedy disease have a reduced risk of androgenetic alopecia
Men with Kennedy disease have less chance of hair loss.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.