research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
Search
for
Sort by
Research
480-510 / 1000+ results 
research Secretory Phospholipase A2-IIA Overexpressing Mice Exhibit Cyclic Alopecia Mediated Through Aberrant Hair Shaft Differentiation and Impaired Wound Healing Response
Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research The Effect of DNMTs and MBPs on Hypomethylation in Systemic Lupus Erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
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 Function of KLF4 in Stem Cell Biology
KLF4 is important for maintaining stem cells and has potential in cancer treatment and wound healing.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Sequence And Structure Based Assessment Of Non-Synonymous SNPs In Hypertrichosis Universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Overview of Various Dermatological Conditions with Complex Classifications
The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Lineage Commitment of Dermal Fibroblast Progenitors Is Mediated by Chromatin De-repression
Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
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 Male Androgenetic Alopecia
Male androgenetic alopecia involves hair follicle miniaturization due to DHT, with potential treatments using inhibitors and blockers.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research WNT10B (Wingless-Type MMTV Integration Site Family): Role in Biological Processes and Diseases
WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Distinct Stem Cells Contribute to Mammary Gland Development and Maintenance
Different types of long-lasting stem cells are responsible for the growth and upkeep of the mammary gland.
research Epithelial Stem Cells: Turning Over New Leaves
Epithelial stem cells are crucial for tissue renewal and repair, and understanding them could improve treatments for damage and cancer.
research Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling
Fat-related cells are important for initiating hair growth.
research Alopecia Areata Update
Half of people with Alopecia Areata may see hair regrowth within a year without treatment, but recovery is unpredictable.
research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Leucine-Rich Repeat-Containing G-Protein-Coupled Receptors as Markers of Adult Stem Cells
Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.