[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)].
Genetika
Published: November 2004
The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.
Download full-text PDF |
Source |
|---|
Similar Publications
A Skin Biopsy of the Abdominal Wall Without a Rash Is Safe and Effective in the Diagnosis of Systemic Amyloidosis.
Am J Dermatopathol
April 2025
Medical Doctor, Department of Plastic and Aesthetic Surgery, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
The diagnosis of systemic amyloidosis is decided through histologic materials from biopsy from different organs. This is a retrospective study from the institutional database of our hospital and consisted of patients to being judged to need skin biopsy for the purpose of diagnosing systemic amyloidosis visiting dermatology between April 2005 and August 2022. A total of 30 patients underwent the skin biopsy of dermis and fatty tissue on abdominal wall without rash and a total of 36 specimens were obtained.
View Article and Find Full Text PDFMyelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1).
Int J Hematol
March 2025
Division of Hematology, Uji-Tokushukai Medical Center, Uji, Kyoto, 611-0041, Japan.
We report here a case of myelodysplastic syndrome (MDS) that developed in a 60-year-old female with dehydrated hereditary stomatocytosis 1 (DHS1) with PIEZO1 gene mutation (p. E2496ELE). The patient had a non-transfused status until the age of 60, when her anemia progressed.
View Article and Find Full Text PDFPNPLA6 regulates retinal homeostasis by choline through phospholipid turnover.
Nat Commun
March 2025
Laboratory of Microenvironmental and Metabolic Health Science, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Although mutations in human patatin-like phospholipase PNPLA6 are associated with hereditary retinal degenerative diseases, its mechanistic action in the retina is poorly understood. Here, we uncover the molecular mechanism by which PNPLA6 dysfunction disturbs retinal homeostasis and visual function. PNPLA6, by acting as a phospholipase B, regulates choline mobilization from phosphatidylcholine and subsequent choline turnover for phosphatidylcholine regeneration in retinal pigment epithelial cells.
View Article and Find Full Text PDFCanadian consensus for the assessment and testing of Lynch syndrome.
J Med Genet
March 2025
Fred A Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
Background: Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome caused by a germline pathogenic variant, or epigenetic silencing, of a mismatch repair (MMR) gene, leading to a wide cancer spectrum with gene-specific penetrance. Ascertainment, assessment and testing of LS individuals is complex. A Canadian national guideline is needed to ensure equitable access to patient care across the country.
View Article and Find Full Text PDFThe Effect of Blood Selenium Level on the pCR Rate in Breast Cancer Patient Receiving Neoadjuvant Chemotherapy.
Cancers (Basel)
February 2025
Read-Gene, Grzepnica, ul. Alabastrowa 8, 72-003 Dobra, Poland.
Purpose: Among patients treated with neoadjuvant chemotherapy (NAC), a high survival rate is observed for those who experience a pathological complete response (pCR). Various tumor factors are predictive of a pCR, but few host factors have been studied.We sought to inquire whether or not a patient's blood selenium level prior to treatment was predictive of a pCR.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!
© LitMetric 2025. All rights reserved.