research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
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450-480 / 1000+ resultsresearch Expression of the Orphan Protein Plet-1 during Trichilemmal Differentiation of Anagen Hair Follicles
Plet-1 protein helps hair follicle cells move and stick to tissues.
research Genetic basis of polycystic ovary syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
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 Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Deregulated expression of E2F1 induces hyperplasia and cooperates with ras in skin tumor development
Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
research Impact of mTORC1 inhibition on keratinocyte proliferation during skin tumor promotion in wild‐type and BK5.AktWT mice
Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.
research Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1 ‐mediated P53 ubiquitination
Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
research Characterization and functional analysis of Krtap11-1 during hair follicle development in Angora rabbits (Oryctolagus cuniculus)
research Expression patterns of three estrogen receptor genes during zebrafish (Danio rerio) development: evidence for high expression in neuromasts
The three estrogen receptor genes are highly expressed in zebrafish neuromasts during development.
research 189 Integrating single-cell and spatial transcriptomics of human hair follicles to define transcriptional signature of follicular dermal papilla
The research identified specific genes that are active in the cells crucial for hair growth.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research SP1 and KROX20 Regulate the Proliferation of Dermal Papilla Cells and Target the CUX1 Gene
SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.
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 A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Polymorphisms of OCT1 and metformin effects in Iraqi women with polycystic ovary syndrome in Karbala city
Hormone levels can help predict metformin treatment success in women with PCOS.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research Evidence for Masculinization of Adipokine Gene Expression in Visceral and Subcutaneous Adipose Tissue of Obese Women With Polycystic Ovary Syndrome (PCOS)
Obese women with PCOS show a male-like pattern in certain fat tissue gene expressions.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
research Spatial transcriptomics of a giant pilomatricoma
The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
research GPRC6A-Duox1 Axis Regulates the Hair Cycle Through H2O2 Generation
The GPRC6A-Duox1 axis helps control hair growth and loss by affecting hydrogen peroxide production.
research 1370 MTORC1 activity is increased in the skin of acne patients and is suppressed with isotretinoin treatment
Acne patients have higher skin mTORC1 activity, which is reduced by isotretinoin treatment.
research 518 Nutrient and stress sensing as novel physiological regulator of human hair pigmentation and greying: Role of mTORC1 activity
Blocking mTORC1 activity could increase hair pigmentation and potentially reverse greying.
research 1410 Single-cell RNA sequencing reveals POUF51 and HES3 as regulators of the stem cell population in psoriasis
POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
research Androgen receptor-mediated gene activation in prostate cancer cells
Androgen receptors help prostate cancer cells grow and resist drugs.
research INNOVATIVE APPROACH TO CRC PREVENTION: THE ROLE OF LOW-PENETRATION GENES
Low-penetration genes might help personalize colorectal cancer prevention.