research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Citrullus colocynthis (L.) Schrad. (Cucurbitaceae)
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 Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Multiple ulcerative plaques on the folds
Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
research A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Suspected cases of pulmonary tuberculosis referred from port of entry.
research Remission in Cushing disease with cabergoline
Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?
Identical p53 gene mutations in different cancers suggest the need for careful treatment.
research Bilateral anterior uveitis as a presenting manifestation of sarcoidosis and syphilis
Surgical excision is the best treatment for SCC.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research 004 Post Finasteride Syndrome: is Dutasteride Unfairly Accused?
research Table S1. Disease-dependent differences between tape-strip and bulk biopsy ssGSEA scores across hair follicle compartments
research Table S1. Disease-dependent differences between tape-strip and bulk biopsy ssGSEA scores across hair follicle compartments
research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
research SALT II: A new take on the Severity of Alopecia Tool (SALT) for determining percentage scalp hair loss
The updated SALT II tool offers a more precise way to measure scalp hair loss.
research S1:05 Cutaneous lupus subtypes: the tissue response influences the phenotype
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research Novel Chemically Modified Curcumin (CMC) Analogs Exhibit Anti-Melanogenic Activity in Primary Human Melanocytes
CMC2.24 and CMC2.23 reduce melanin safely and effectively.
research 54767 Involvement of Calcinosis Cutis in Autoimmune Connective Tissue Diseases
Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
research “Finasteride”
research Co-editor’s note
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