research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
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research KRT17: A Key Driver of Cancer Therapy Resistance and Emerging Therapeutic Target
Targeting Keratin 17 may help overcome cancer therapy resistance.
research Diabetes, ovarian tumor, hyperparathyroidism, and papillary cancer: A chance association?
The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
research Clinical and trichoscopic features of early congenital syphilis: a single-center cross-sectional study
Trichoscopy can help diagnose early congenital syphilis in newborns.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
research Multicentric parallel phase II trial of the polo-like kinase 1 inhibitor BI 2536 in patients with advanced head and neck cancer, breast cancer, ovarian cancer, soft tissue sarcoma and melanoma. The first protocol of the European Organization for Research and Treatment of Cancer (EORTC) Network Of Core Institutes (NOCI)
BI 2536 had limited effectiveness against several advanced cancers and caused significant side effects.
research 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy
A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Subtle Trichilemmal Carcinoma of Neck Initially Misdiagnosed as Benign Cyst and Ultimately Treated with Mohs Micrographic Surgery
A neck lesion misdiagnosed as benign was later treated successfully with Mohs Micrographic Surgery.
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 Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Central precocious puberty secondary to peripheral precocious puberty due to a pineal germ cell tumor: a case and review of literature
A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Overtreatment of Transient Maternal Hyperthyroidism Resulting in Fetal Goiter
Proper diagnosis is crucial to avoid overtreatment and complications in pregnant women with hyperthyroidism.
research ZASTOSOWANIE TERAPII CAR-T W ONKOHEMATOLOGII DZIECIĘCEJ
CAR-T therapy offers hope for children with hard-to-treat blood cancers.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.