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420-450 / 1000+ resultsresearch Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Higher androgen and estrogen output and less follicular atresia can be induced in healthy ovaries by culturing them with sera from PCOS patients: is PCOS really of intraovarian origin?
PCOS may be influenced by factors in the blood, not just the ovaries.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research 1434 Epithelially derived MPZL3 negatively regulates murine and human sebaceous gland size and sebocyte proliferation
MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research Asian women with PCOS have enhanced ovarian reserve and ART outcomes, even at an advanced maternal age: a model for reproductive longevity?
research Cryopreservation of Multicellular Spheroids Derived From Rabbit Dermal Papilla Cells
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research YAP and TAZ are essential for basal and squamous cell carcinoma initiation
YAP and TAZ proteins are necessary for the development of two types of skin cancer.
research Tissue regenerative delays and synthetic lethality in adult mice after combined deletion of Atr and Trp53
Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
research Molecular Mechanisms in the Etiology of Polycystic Ovary Syndrome (PCOS): A Multifaceted Hypothesis Towards the Disease with Potential Therapeutics
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
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 Molecular mechanisms of asymmetric divisions in mammary stem cells
Disruptions in mammary stem cell division can lead to cancer, but targeting these processes might help treat breast cancer.
research MicroRNA-302 Increases Reprogramming Efficiency via Repression of NR2F2
MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Generation of germline-competent induced pluripotent stem cells
Scientists can make stem cells that can turn into any cell type.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research Transcription factor-based transdifferentiation of human embryonic to trophoblast stem cells
Researchers converted human embryonic stem cells into trophoblast stem cells using specific transcription factors.
research MmuPV1 infection and tumor development of T cell-deficient mice is prevented by passively transferred hyperimmune sera from normal congenic mice immunized with MmuPV1 virus-like particles (VLPs)
Giving immune serum from vaccinated mice to mice without T cells prevents infection and tumor growth.