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.
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research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
Mutations in specific llama genes may affect fiber quality for textiles.
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 Characterization and Localization of Side Population Cells in Mouse Skin
Mouse skin has special cells in the epidermis that decrease with age and are linked to keratinocyte stem cells.
research 40 PRLR and PCCA variants associated with hair length in Brangus heifers
Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Regulation of Hematopoietic Cell Development and Hair Growth in Mouse Models: Expression Analysis of Tudor-SN and Polyamine-Regulated Proteins
Tudor-SN is important for immune cells, and polyamines can promote hair growth.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
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 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Comprehensive whole-genome resequencing unveils genetic diversity and selective signatures of the Xiangdong black goat
Xiangdong black goats have moderate genetic diversity, minimal inbreeding, and important genes for reproduction, immunity, and other traits.
research Clinical Snippets
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research 004 Post Finasteride Syndrome: is Dutasteride Unfairly Accused?
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
Gene variant linked to prostate cancer, hormone levels, and hair loss.
research Analysis of the Long Non-Coding and Messenger RNA Expression Profiles in the Skin Tissue of Super Merino and Small-Tailed Han Sheep
Key genes and RNAs related to hair growth in sheep were identified, aiding future breeding improvements.
research TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network
TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
research Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A
research 516 Functional annotation of genes underlying hair disorders
The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 710 BIOMARKERS OF SUNITNIB CLINICAL RESPONSE IN METASTATIC RENAL CLEAR CELL CARCINOMA PATIENTS
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Analysis of LncRNA and mRNA Expression Profiles in Skin Tissues of Super Merino Sheep and Small-Tailed Han Sheep
Researchers found genes in sheep that may affect hair growth and wool quality.
research IMMUNOLOGICAL AND SOME BIOLOGICAL BIOMARKERS INVESTIGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
No single biomarker is reliable enough for diagnosing and assessing SLE.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.