research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
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research 874 Elevated expression of osteopontin splice variants in nonmelanoma skin cancer compared to normal skin and adult keratinocytes
Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
research Hoxc13 Expression Pattern in Cashmere Goat Skin During Hair Follicle Development
Hoxc13 gene expression and skin thickness change similarly during cashmere goat hair follicle development.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Cytokeratin 7 and 20
CK7 and CK20 help identify and classify tumors for accurate cancer diagnosis.
research Prevalence of cervical insufficiency in polycystic ovarian syndrome
Women with polycystic ovarian syndrome are more likely to have cervical insufficiency, especially South Asian and Black women.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research 1372 Modulation of YBX1 phosphorylation determines epidermal stem cell function
Changing YBX1 protein activity affects skin stem cell function and aging.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Association between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome
Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with PCOS.
research Expression of caspase-14 and keratin-19 in the human epidermis and appendages during fetal skin development
research Expression patterns of programmed cell death 4 protein in normal human skin and some representative skin lesions
Increasing PDCD4 protein may help prevent or treat some skin cancers.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Biomarker development for PCOS diagnosis
Creating specific biological indicators is important for early detection and treatment of PCOS.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research 200 The relationship between the expression of cytokeratin 5/6 and clinicopathologic factors in invasive breast carcinoma
CK 5/6 expression in breast cancer is linked to negative hormone receptor status and higher tumor grade.
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 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review
The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Defective Expression of the Gap Junction Protein Pannexin-1 Channel Contributes to the Formation of PCOS-Realted Androgenetic Alopecia
Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
research The changes in the expression levels of follicular markers in keratoacanthoma depend on the stage: keratoacanthoma is a follicular neoplasm exhibiting infundibular/isthmic differentiation without expression of CK15
Keratoacanthoma changes as it grows, showing different hair follicle characteristics at each stage.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Serum Dicckopf-1 Level in Patients of Cicatricial and Non- Cicatricial Alopecia
People with non-scarring hair loss have higher levels of DKK-1, a protein linked to hair growth, than those with scarring hair loss or no hair loss.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Multi-specialty Physician Preferences and Perceptions in Treatment and Management of Polycystic Ovary Syndrome in China: Survey and Discrete Choice Experiment
Physicians in China prioritize clinical hyperandrogenism in PCOS treatment, but clearer guidelines are needed.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.