research Papillon-Lefèvre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
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research Primary Cilia Regulate Meibomian Glands Development and Dimensions Without Impairing Lipid Composition of the Meibum
Primary cilia affect the size and oil production of eye glands but not the oil's makeup.
research Patched-Associated Tumors: Modifier Genes and Pathogenesis
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research Obstetric Dermatology
The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
research Main Plenary Sessions: Summaries of Papers
UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Different Polyamine Levels in the Vertex and Occipital Hair of Pattern Hair Loss Patients
People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
research Specialized Ribosomes in Human Dermal Fibroblast Senescence
Specialized ribosomes affect aging in human skin cells.
research In Vivo Function of VDR in Gene Expression: VDR Knock-Out Mice
Vitamin D receptor is crucial for bone health and mineral metabolism.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Comparison of the Acute Ultraviolet Photoresponse in Congenic Albino Hairless C57BL/6J Mice Relative to Outbred SKH1 Hairless Mice
B6.Cg-Tyr c−2J Hr hr /J mice have a stronger delayed sunburn reaction and are good for UV research.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Insertional Mutation of the Hairless Locus on Mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Granulomatous Skin Involvement in a Patient with an Unusual NOD2 Mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research A Novel Mutation in Hr Causes Abnormal Hair Follicle Morphogenesis in Hairpoor Mouse, an Animal Model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
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 Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
research Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research Homologous Recombination Induced by Doxazosin Mesylate and Saw Palmetto in the Drosophila Wing-Spot Test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research A Biochemical Marker In A Dominant Mouse Trait
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.