research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
Search
for
Sort by
Research
900-930 / 1000+ results 
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Expression of androgen receptor coactivator ARA70/ELE1 in androgenic alopecia
The protein ARA70/ELE1 is involved in male pattern baldness, and lower levels of its short form may lead to hair thinning.
research RANK as a therapeutic target in cancer
RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Assessment of chemokines MIP-1α and MIP-1 βin Iraqi women with polycystic ovarian syndrome
PCOS is linked to low-grade chronic inflammation.
research Perbandingan Kadar Transforming Growth Factor-Beta 1 pada Platelet Rich Plasma dengan Metode Pure dan Buffy Coat pada Populasi Individu Sehat
The buffy coat method yields higher TGF-β1 levels in PRP, especially in males.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Glypican-1, -4 and 6 Participate in the Hair Follicle Stem Cell Differentiation via Specific Interactions with BMP2R, Fz7 and Patched 1
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of <i>Retinoblastoma</i> and <i>Trp53</i> Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Pyrene Excimer Nucleic Acid Probes for Biomolecule Signaling
Pyrene excimer nucleic acid probes are promising for detecting biomolecules accurately with potential for biological research and drug screening.
research Association of basonuclin with ability of keratinocytes to multiply and with absence of terminal differentiation.
Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
research miR-29a-5p Inhibits Prenatal Hair Placode Formation Through Targeting EDAR by ceRNA Regulatory Network
miR-29a-5p prevents the formation of early hair structures by targeting a gene important for hair growth and is regulated by a complex network involving lncRNA627.1.
research Deletion analysis of AGD1 reveals domains crucial for its plasma membrane recruitment and function in root hair polarity
AGD1's PH domain is essential for its role in root hair growth and polarity.
research METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research МОДЕЛИРОВАНИЕ РИНОХИРУРГИЧЕСКИХ ВМЕШАТЕЛЬСТВ У КРЫС: ЭКСПРЕССИЯ БЕЛКА Р53 И ФОРМИРОВАНИЕ ТЕМНЫХ НЕЙРОНОВ В ГИППОКАМПЕ
p53 protein may help protect or kill neurons under stress.
research Comprehensive analysis of circRNAs from cashmere goat skin by next generation RNA sequencing (RNA-seq)
Four circRNAs were found to be significantly different in cashmere goat skin, affecting cashmere fineness.
research Le point de vue du pathologiste concernant l’étude PCPT
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome
Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
research The T-cell antigen receptor: paradigm recalled
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 Expression and localization of A rtemis serine 516 phosphorylation in human scalp skin
Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
research A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations
A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
Polygenic risk scores can predict the risk and outcomes of benign prostatic hyperplasia.