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540-570 / 1000+ results research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
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 The acyl-CoA binding protein is required for normal epidermal barrier function in mice
ACBP is crucial for healthy skin in mice.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research 1270 Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
research Erosive pustular dermatosis of the scalp: a pathogenetic мystery and therapeutic challenge
A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research NON-ANEMIC IRON DEFICIENCY AS AN ETIOLOGIC FACTOR IN DIFFUSE LOSS OF HAIR OF THE SCALP IN WOMEN.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research Ornithine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10.
High ODC and low K1 and K10 may indicate early skin tumors in mice.
research Pannexin 3 regulates skin development via Epiprofin
Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Phenolsulphotransferase: localization in kidney during human embryonic and fetal development
The enzyme PST is found in developing human kidneys and helps with detoxification and development.
research Protein Kinase C Downregulation upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease
Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research The First Case of Extensive Metastatic Pancreatic Mixed Acinar-neuroendocrine Carcinoma(MANEC) in a Cat
A cat had a rare, aggressive pancreatic cancer that spread quickly and led to its death.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
research 1358 PRC1 fine-tunes gene repression and activation to safeguard skin epithelium development and stem cell specification
PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Central Centrifugal Cicatricial Alopecia in Males: Analysis of Time to Diagnosis and Disease Severity
Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.
research The Classic Dermatological Signs of Iron Deficiency: A Case-Series
Iron deficiency can cause certain skin issues like eczematous hand and perioral lesions.