October 2024 in “Developmental Dynamics” This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.
February 1985 in “PubMed”
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
2 citations
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January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
12 citations
,
February 2019 in “Developmental Biology” This study found that nerve-mediated HDAC1 expression is necessary for blastema formation and limb regeneration in axolotls, and that inhibiting HDACs delays or inhibits this process.
667 citations
,
May 2008 in “Genes & Development” This review discusses the biochemical and biological functions of histone demethylases and their potential involvement in human diseases, including cancer, but reports no new findings.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
11 citations
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May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” This report presents a case of hereditary elliptocytosis in a 37-year-old woman with iron deficiency anemia, identifying a high percentage of elliptocytes in her blood after treatment.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in bulge stem cells during post-natal development in mice.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
8 citations
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October 2012 in “Transgenic Research” This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.
March 2024 in “Journal of Experimental & Biomedical Sciences/Biomedical Science Letters” In this study, BCC therapy reduced oxidative stress and cell damage in cardiomyocyte cells, suggesting it may serve as a new treatment alternative for heart disease.
January 2026 in “RSC Medicinal Chemistry” This review highlights advancements in the synthesis and biological applications of 2,5-Diazabicyclo[2.2.1]heptane, a scaffold in medicinal chemistry, focusing on its construction strategies and potential use in treatments for cancer, neurological disorders, and infections.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
39 citations
,
August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
14 citations
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May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
April 2017 in “Plastic & Reconstructive Surgery Global Open” This study suggests that while hyaluronan production by Has2 is not necessary for reepithelization, it plays a crucial role in collagen matrix reorganization during wound healing.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
July 2008 in “Hair transplant forum international” This piece marks the tenth anniversary of the American Board of Hair Restoration Surgery and highlights the addition of 14 new diplomates from diverse countries, while reporting no new clinical findings.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
16 citations
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January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
234 citations
,
April 2000 in “Gene” This review discusses the expression patterns and biochemical roles of Msx and Dlx genes during development but does not present new research findings.
9 citations
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December 1987 in “Archives of Dermatology” This study highlights two newly discovered metabolic disorders of biotin, showing distinct skin and hair symptoms and severe complications like acidosis and ketosis.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” The authors concluded that increased expression of the HSD11B1 gene in adipose tissue correlates with obesity markers and predicts insulin resistance, but this association is independent of polycystic ovary syndrome when adiposity is controlled for.